This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2260784935
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094445C= , CM000679.2:g.43094445C= GRCh38
NC_000017.10:g.41246462C= , CM000679.1:g.41246462C= GRCh37
NC_000017.9:g.38499988C= NCBI36
NG_005905.2:g.123539G= , LRG_292:g.123539G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1150G=
ENST00000461574.2:c.1086G= ENSP00000417241.2:p.Glu362=
ENST00000470026.6:c.1086G= ENSP00000419274.2:p.Glu362=
ENST00000473961.6:c.960G= ENSP00000420201.2:p.Glu320=
ENST00000476777.6:c.1083G= ENSP00000417554.2:p.Glu361=
ENST00000477152.6:c.1008G= ENSP00000419988.2:p.Glu336=
ENST00000478531.6:c.784+299G= ENSP00000420412.2:n.784+299G=
ENST00000489037.2:c.1008G= ENSP00000420781.2:p.Glu336=
ENST00000493919.6:c.646+299G= ENSP00000418819.2:n.646+299G=
ENST00000494123.6:c.1086G= ENSP00000419103.2:p.Glu362=
ENST00000497488.2:c.198G= ENSP00000418986.2:p.Glu66=
ENST00000618469.2:c.1086G= ENSP00000478114.2:p.Glu362=
ENST00000634433.2:c.963G= ENSP00000489431.2:p.Glu321=
ENST00000644379.2:c.1086G= ENSP00000496570.2:p.Glu362=
ENST00000644555.2:c.646+299G= ENSP00000494614.2:n.646+299G=
ENST00000652672.2:c.945G= ENSP00000498906.2:p.Glu315=
ENST00000484087.6:c.664+299G= ENSP00000419481.2:n.664+299G=
ENST00000700182.1:c.706+299G= ENSP00000514849.1:n.706+299G=
ENST00000700183.1:c.*1094G= ENSP00000514850.1:n.*1094G=
ENST00000357654.9:c.1086G= MANE Select ENSP00000350283.3:p.Glu362=
ENST00000471181.7:c.1086G= ENSP00000418960.2:p.Glu362=
ENST00000652672.1:c.945G= ENSP00000498906.1:p.Glu315=
ENST00000352993.7:c.670+1401G= ENSP00000312236.5:n.670+1401G=
ENST00000354071.7:c.1086G= ENSP00000326002.7:p.Glu362=
ENST00000357654.7:c.1086G= ENSP00000350283.3:p.Glu362=
ENST00000412061.3:c.437G=
ENST00000461221.5:c.*869G= ENSP00000418548.1:n.*869G=
ENST00000468300.5:c.787+299G= ENSP00000417148.1:n.787+299G=
ENST00000470026.5:c.1086G= ENSP00000419274.1:p.Glu362=
ENST00000471181.6:c.1086G= ENSP00000418960.2:p.Glu362=
ENST00000473961.5:c.683G=
ENST00000477152.5:c.1008G= ENSP00000419988.1:p.Glu336=
ENST00000478531.5:c.784+299G= ENSP00000420412.1:n.784+299G=
ENST00000484087.5:c.409+299G= ENSP00000419481.1:n.409+299G=
ENST00000487825.5:c.412+299G= ENSP00000418212.1:n.412+299G=
ENST00000491747.6:c.787+299G= ENSP00000420705.2:n.787+299G=
ENST00000492859.5:c.*1022G= ENSP00000420253.1:n.*1022G=
ENST00000493795.5:c.945G= ENSP00000418775.1:p.Glu315=
ENST00000493919.5:c.646+299G= ENSP00000418819.1:n.646+299G=
ENST00000494123.5:c.1086G= ENSP00000419103.1:p.Glu362=
ENST00000497488.1:c.198G= ENSP00000418986.1:p.Glu66=
ENST00000586385.5:c.5-30494G= ENSP00000465818.1:n.5-30494G=
ENST00000591534.5:c.-43-19924G= ENSP00000467329.1:n.-43-19924G=
ENST00000591849.5:c.-99+30826G= ENSP00000465347.1:n.-99+30826G=
ENST00000634433.1:c.963G= ENSP00000489431.1:p.Glu321=
NM_007294.3:c.1086G= , LRG_292t1:c.1086G= NP_009225.1:p.Glu362=
NM_007297.3:c.945G= NP_009228.2:p.Glu315=
NM_007298.3:c.787+299G= NP_009229.2:n.787+299G=
NM_007299.3:c.787+299G= NP_009230.2:n.787+299G=
NM_007300.3:c.1086G= NP_009231.2:p.Glu362=
NR_027676.1:n.1222G=
NM_007294.4:c.1086G= MANE Select NP_009225.1:p.Glu362=
NM_007297.4:c.945G= NP_009228.2:p.Glu315=
NM_007299.4:c.787+299G= NP_009230.2:n.787+299G=
NM_007300.4:c.1086G= NP_009231.2:p.Glu362=
NR_027676.2:n.1263G=