Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43099831_43099832delinsGT , CM000679.2:g.43099831_43099832delinsGT	GRCh38
NC_000017.10:g.41251848_41251849delinsGT , CM000679.1:g.41251848_41251849delinsGT	GRCh37
NC_000017.9:g.38505374_38505375delinsGT	NCBI36
NG_005905.2:g.118152_118153delinsAC , LRG_292:g.118152_118153delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.554_555delinsAC
ENST00000461574.2:c.490_491delinsAC	ENSP00000417241.2:p.Thr164=
ENST00000470026.6:c.490_491delinsAC	ENSP00000419274.2:p.Thr164=
ENST00000473961.6:c.487_488delinsAC	ENSP00000420201.2:p.Thr163=
ENST00000476777.6:c.487_488delinsAC	ENSP00000417554.2:p.Thr163=
ENST00000477152.6:c.412_413delinsAC	ENSP00000419988.2:p.Thr138=
ENST00000478531.6:c.487_488delinsAC	ENSP00000420412.2:p.Thr163=
ENST00000489037.2:c.412_413delinsAC	ENSP00000420781.2:p.Thr138=
ENST00000493919.6:c.349_350delinsAC	ENSP00000418819.2:p.Thr117=
ENST00000494123.6:c.490_491delinsAC	ENSP00000419103.2:p.Thr164=
ENST00000497488.2:c.-218-4972_-218-4971delinsAC	ENSP00000418986.2:n.-218-4972_-218-4971delinsAC
ENST00000618469.2:c.490_491delinsAC	ENSP00000478114.2:p.Thr164=
ENST00000634433.2:c.490_491delinsAC	ENSP00000489431.2:p.Thr164=
ENST00000644379.2:c.490_491delinsAC	ENSP00000496570.2:p.Thr164=
ENST00000644555.2:c.349_350delinsAC	ENSP00000494614.2:p.Thr117=
ENST00000652672.2:c.349_350delinsAC	ENSP00000498906.2:p.Thr117=
ENST00000484087.6:c.490_491delinsAC	ENSP00000419481.2:p.Thr164=
ENST00000700182.1:c.409_410delinsAC	ENSP00000514849.1:p.Thr137=
ENST00000700183.1:c.404_405delinsAC	ENSP00000514850.1:n.404_405delinsAC
ENST00000700184.1:n.730_731delinsAC
ENST00000357654.9:c.490_491delinsAC MANE Select	ENSP00000350283.3:p.Thr164=
ENST00000471181.7:c.490_491delinsAC	ENSP00000418960.2:p.Thr164=
ENST00000642945.1:c.364_365delinsAC	ENSP00000495897.1:n.364_365delinsAC
ENST00000652672.1:c.349_350delinsAC	ENSP00000498906.1:p.Thr117=
ENST00000352993.7:c.490_491delinsAC	ENSP00000312236.5:p.Thr164=
ENST00000354071.7:c.490_491delinsAC	ENSP00000326002.7:p.Thr164=
ENST00000357654.7:c.490_491delinsAC	ENSP00000350283.3:p.Thr164=
ENST00000461221.5:c.273_274delinsAC	ENSP00000418548.1:n.273_274delinsAC
ENST00000461798.5:c.276_277delinsAC	ENSP00000417988.1:n.276_277delinsAC
ENST00000468300.5:c.490_491delinsAC	ENSP00000417148.1:p.Thr164=
ENST00000470026.5:c.490_491delinsAC	ENSP00000419274.1:p.Thr164=
ENST00000471181.6:c.490_491delinsAC	ENSP00000418960.2:p.Thr164=
ENST00000473961.5:c.210_211delinsAC
ENST00000476777.5:c.487_488delinsAC	ENSP00000417554.1:p.Thr163=
ENST00000477152.5:c.412_413delinsAC	ENSP00000419988.1:p.Thr138=
ENST00000478531.5:c.487_488delinsAC	ENSP00000420412.1:p.Thr163=
ENST00000484087.5:c.235_236delinsAC	ENSP00000419481.1:p.Thr79=
ENST00000487825.5:c.238_239delinsAC	ENSP00000418212.1:p.Thr80=
ENST00000491747.6:c.490_491delinsAC	ENSP00000420705.2:p.Thr164=
ENST00000492859.5:c.426_427delinsAC	ENSP00000420253.1:n.426_427delinsAC
ENST00000493795.5:c.349_350delinsAC	ENSP00000418775.1:p.Thr117=
ENST00000493919.5:c.349_350delinsAC	ENSP00000418819.1:p.Thr117=
ENST00000494123.5:c.490_491delinsAC	ENSP00000419103.1:p.Thr164=
ENST00000497488.1:c.-218-4972_-218-4971delinsAC	ENSP00000418986.1:n.-218-4972_-218-4971delinsAC
ENST00000586385.5:c.4+25350_4+25351delinsAC	ENSP00000465818.1:n.4+25350_4+25351delinsAC
ENST00000591534.5:c.-43-25311_-43-25310delinsAC	ENSP00000467329.1:n.-43-25311_-43-25310delinsAC
ENST00000591849.5:c.-99+25439_-99+25440delinsAC	ENSP00000465347.1:n.-99+25439_-99+25440delinsAC
ENST00000634433.1:c.490_491delinsAC	ENSP00000489431.1:p.Thr164=
NM_007294.3:c.490_491delinsAC , LRG_292t1:c.490_491delinsAC	NP_009225.1:p.Thr164=
NM_007297.3:c.349_350delinsAC	NP_009228.2:p.Thr117=
NM_007298.3:c.490_491delinsAC	NP_009229.2:p.Thr164=
NM_007299.3:c.490_491delinsAC	NP_009230.2:p.Thr164=
NM_007300.3:c.490_491delinsAC	NP_009231.2:p.Thr164=
NR_027676.1:n.626_627delinsAC
NM_007294.4:c.490_491delinsAC MANE Select	NP_009225.1:p.Thr164=
NM_007297.4:c.349_350delinsAC	NP_009228.2:p.Thr117=
NM_007299.4:c.490_491delinsAC	NP_009230.2:p.Thr164=
NM_007300.4:c.490_491delinsAC	NP_009231.2:p.Thr164=
NR_027676.2:n.667_668delinsAC