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Canonical Allele Identifier: CA3060570747
Community Standard Title: NM_007294.4(BRCA1):c.2666_2667del (p.Ser889TrpfsTer13)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092866_43092867del , CM000679.2:g.43092866_43092867del GRCh38
NC_000017.10:g.41244883_41244884del , CM000679.1:g.41244883_41244884del GRCh37
NC_000017.9:g.38498409_38498410del NCBI36
NG_005905.2:g.125119_125120del , LRG_292:g.125119_125120del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.2666_2667del MANE Select NP_009225.1:p.Ser889TrpfsTer13
ENST00000357654.9:c.2666_2667del MANE Select ENSP00000350283.3:p.Ser889TrpfsTer13
NM_007294.3:c.2666_2667del , LRG_292t1:c.2666_2667del NP_009225.1:p.Ser889TrpfsTer13
NM_007297.3:c.2525_2526del NP_009228.2:p.Ser842TrpfsTer13
NM_007297.4:c.2525_2526del NP_009228.2:p.Ser842TrpfsTer13
NM_007298.3:c.788-1833_788-1832del NP_009229.2:n.788-1833_788-1832del
NM_007299.3:c.788-1833_788-1832del NP_009230.2:n.788-1833_788-1832del
NM_007299.4:c.788-1833_788-1832del NP_009230.2:n.788-1833_788-1832del
NM_007300.3:c.2666_2667del NP_009231.2:p.Ser889TrpfsTer13
NM_007300.4:c.2666_2667del NP_009231.2:p.Ser889TrpfsTer13
NR_027676.1:n.2802_2803del
NR_027676.2:n.2843_2844del
ENST00000352993.7:c.671-1833_671-1832del ENSP00000312236.5:n.671-1833_671-1832del
ENST00000354071.7:c.2666_2667del ENSP00000326002.7:p.Ser889TrpfsTer13
ENST00000354071.8:n.2730_2731del
ENST00000357654.7:c.2666_2667del ENSP00000350283.3:p.Ser889TrpfsTer13
ENST00000461221.5:c.*2449_*2450del ENSP00000418548.1:n.*2449_*2450del
ENST00000461574.2:c.2666_2667del ENSP00000417241.2:p.Ser889TrpfsTer13
ENST00000468300.5:c.788-1833_788-1832del ENSP00000417148.1:n.788-1833_788-1832del
ENST00000470026.6:c.2666_2667del ENSP00000419274.2:p.Ser889TrpfsTer13
ENST00000471181.6:c.2666_2667del ENSP00000418960.2:p.Ser889TrpfsTer13
ENST00000471181.7:c.2666_2667del ENSP00000418960.2:p.Ser889TrpfsTer13
ENST00000473961.6:c.2540_2541del ENSP00000420201.2:p.Ser847TrpfsTer13
ENST00000476777.6:c.2663_2664del ENSP00000417554.2:p.Ser888TrpfsTer13
ENST00000477152.6:c.2588_2589del ENSP00000419988.2:p.Ser863TrpfsTer13
ENST00000478531.5:c.785-1833_785-1832del ENSP00000420412.1:n.785-1833_785-1832del
ENST00000478531.6:c.785-1833_785-1832del ENSP00000420412.2:n.785-1833_785-1832del
ENST00000484087.5:c.410-1833_410-1832del ENSP00000419481.1:n.410-1833_410-1832del
ENST00000484087.6:c.665-1833_665-1832del ENSP00000419481.2:n.665-1833_665-1832del
ENST00000487825.5:c.413-1833_413-1832del ENSP00000418212.1:n.413-1833_413-1832del
ENST00000489037.2:c.2588_2589del ENSP00000420781.2:p.Ser863TrpfsTer13
ENST00000491747.6:c.788-1833_788-1832del ENSP00000420705.2:n.788-1833_788-1832del
ENST00000493795.5:c.2525_2526del ENSP00000418775.1:p.Ser842TrpfsTer13
ENST00000493919.5:c.647-1833_647-1832del ENSP00000418819.1:n.647-1833_647-1832del
ENST00000493919.6:c.647-1833_647-1832del ENSP00000418819.2:n.647-1833_647-1832del
ENST00000494123.6:c.2666_2667del ENSP00000419103.2:p.Ser889TrpfsTer13
ENST00000497488.2:c.1778_1779del ENSP00000418986.2:p.Ser593TrpfsTer13
ENST00000586385.5:c.5-28914_5-28913del ENSP00000465818.1:n.5-28914_5-28913del
ENST00000591534.5:c.-43-18344_-43-18343del ENSP00000467329.1:n.-43-18344_-43-18343del
ENST00000591849.5:c.-99+32406_-99+32407del ENSP00000465347.1:n.-99+32406_-99+32407del
ENST00000618469.2:c.2666_2667del ENSP00000478114.2:p.Ser889TrpfsTer13
ENST00000634433.2:c.2543_2544del ENSP00000489431.2:p.Ser848TrpfsTer13
ENST00000644379.2:c.2666_2667del ENSP00000496570.2:p.Ser889TrpfsTer13
ENST00000644555.2:c.647-1833_647-1832del ENSP00000494614.2:n.647-1833_647-1832del
ENST00000652672.2:c.2525_2526del ENSP00000498906.2:p.Ser842TrpfsTer13
ENST00000700182.1:c.707-1833_707-1832del ENSP00000514849.1:n.707-1833_707-1832del