Canonical Allele Identifier: CA2499224545

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1769454
• ClinVar RCV Id: RCV002380892 ; RCV003120988

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094222_43094228del , CM000679.2:g.43094222_43094228del	GRCh38
NC_000017.10:g.41246239_41246245del , CM000679.1:g.41246239_41246245del	GRCh37
NC_000017.9:g.38499765_38499771del	NCBI36
NG_005905.2:g.123756_123762del , LRG_292:g.123756_123762del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1367_1373del
ENST00000461574.2:c.1303_1309del	ENSP00000417241.2:p.Asp435MetfsTer4
ENST00000470026.6:c.1303_1309del	ENSP00000419274.2:p.Asp435MetfsTer4
ENST00000473961.6:c.1177_1183del	ENSP00000420201.2:p.Asp393MetfsTer4
ENST00000476777.6:c.1300_1306del	ENSP00000417554.2:p.Asp434MetfsTer4
ENST00000477152.6:c.1225_1231del	ENSP00000419988.2:p.Asp409MetfsTer4
ENST00000478531.6:c.784+516_784+522del	ENSP00000420412.2:n.784+516_784+522del
ENST00000489037.2:c.1225_1231del	ENSP00000420781.2:p.Asp409MetfsTer4
ENST00000493919.6:c.646+516_646+522del	ENSP00000418819.2:n.646+516_646+522del
ENST00000494123.6:c.1303_1309del	ENSP00000419103.2:p.Asp435MetfsTer4
ENST00000497488.2:c.415_421del	ENSP00000418986.2:p.Asp139MetfsTer4
ENST00000618469.2:c.1303_1309del	ENSP00000478114.2:p.Asp435MetfsTer4
ENST00000634433.2:c.1180_1186del	ENSP00000489431.2:p.Asp394MetfsTer4
ENST00000644379.2:c.1303_1309del	ENSP00000496570.2:p.Asp435MetfsTer4
ENST00000644555.2:c.646+516_646+522del	ENSP00000494614.2:n.646+516_646+522del
ENST00000652672.2:c.1162_1168del	ENSP00000498906.2:p.Asp388MetfsTer4
ENST00000484087.6:c.664+516_664+522del	ENSP00000419481.2:n.664+516_664+522del
ENST00000700182.1:c.706+516_706+522del	ENSP00000514849.1:n.706+516_706+522del
ENST00000700183.1:c.*1311_*1317del	ENSP00000514850.1:n.*1311_*1317del
ENST00000357654.9:c.1303_1309del MANE Select	ENSP00000350283.3:p.Asp435MetfsTer4
ENST00000471181.7:c.1303_1309del	ENSP00000418960.2:p.Asp435MetfsTer4
ENST00000652672.1:c.1162_1168del	ENSP00000498906.1:p.Asp388MetfsTer4
ENST00000352993.7:c.670+1618_670+1624del	ENSP00000312236.5:n.670+1618_670+1624del
ENST00000354071.7:c.1303_1309del	ENSP00000326002.7:p.Asp435MetfsTer4
ENST00000357654.7:c.1303_1309del	ENSP00000350283.3:p.Asp435MetfsTer4
ENST00000412061.3:c.654_660del
ENST00000461221.5:c.*1086_*1092del	ENSP00000418548.1:n.*1086_*1092del
ENST00000468300.5:c.787+516_787+522del	ENSP00000417148.1:n.787+516_787+522del
ENST00000470026.5:c.1303_1309del	ENSP00000419274.1:p.Asp435MetfsTer4
ENST00000471181.6:c.1303_1309del	ENSP00000418960.2:p.Asp435MetfsTer4
ENST00000473961.5:c.900_906del
ENST00000477152.5:c.1225_1231del	ENSP00000419988.1:p.Asp409MetfsTer4
ENST00000478531.5:c.784+516_784+522del	ENSP00000420412.1:n.784+516_784+522del
ENST00000484087.5:c.409+516_409+522del	ENSP00000419481.1:n.409+516_409+522del
ENST00000487825.5:c.412+516_412+522del	ENSP00000418212.1:n.412+516_412+522del
ENST00000491747.6:c.787+516_787+522del	ENSP00000420705.2:n.787+516_787+522del
ENST00000492859.5:c.*1239_*1245del	ENSP00000420253.1:n.*1239_*1245del
ENST00000493795.5:c.1162_1168del	ENSP00000418775.1:p.Asp388MetfsTer4
ENST00000493919.5:c.646+516_646+522del	ENSP00000418819.1:n.646+516_646+522del
ENST00000494123.5:c.1303_1309del	ENSP00000419103.1:p.Asp435MetfsTer4
ENST00000497488.1:c.415_421del	ENSP00000418986.1:p.Asp139MetfsTer4
ENST00000586385.5:c.5-30277_5-30271del	ENSP00000465818.1:n.5-30277_5-30271del
ENST00000591534.5:c.-43-19707_-43-19701del	ENSP00000467329.1:n.-43-19707_-43-19701de...
ENST00000591849.5:c.-99+31043_-99+31049del	ENSP00000465347.1:n.-99+31043_-99+31049de...
ENST00000634433.1:c.1180_1186del	ENSP00000489431.1:p.Asp394MetfsTer4
NM_007294.3:c.1303_1309del , LRG_292t1:c.1303_1309del	NP_009225.1:p.Asp435MetfsTer4
NM_007297.3:c.1162_1168del	NP_009228.2:p.Asp388MetfsTer4
NM_007298.3:c.787+516_787+522del	NP_009229.2:n.787+516_787+522del
NM_007299.3:c.787+516_787+522del	NP_009230.2:n.787+516_787+522del
NM_007300.3:c.1303_1309del	NP_009231.2:p.Asp435MetfsTer4
NR_027676.1:n.1439_1445del
NM_007294.4:c.1303_1309del MANE Select	NP_009225.1:p.Asp435MetfsTer4
NM_007297.4:c.1162_1168del	NP_009228.2:p.Asp388MetfsTer4
NM_007299.4:c.787+516_787+522del	NP_009230.2:n.787+516_787+522del
NM_007300.4:c.1303_1309del	NP_009231.2:p.Asp435MetfsTer4
NR_027676.2:n.1480_1486del