Canonical Allele Identifier: CA10589640
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266501
ClinVar RCV Id: RCV000257572
dbSNP Id: rs886040253

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071036dup , CM000679.2:g.43071036dup GRCh38
NC_000017.10:g.41223053dup , CM000679.1:g.41223053dup GRCh37
NC_000017.9:g.38476579dup NCBI36
NG_005905.2:g.146948dup , LRG_292:g.146948dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4875dup ENSP00000417241.2:p.Ala1626CysfsTer?
ENST00000470026.6:c.4878dup ENSP00000419274.2:p.Ala1627CysfsTer?
ENST00000473961.6:c.4752dup ENSP00000420201.2:p.Ala1585CysfsTer?
ENST00000476777.6:c.4872dup ENSP00000417554.2:p.Ala1625CysfsTer?
ENST00000477152.6:c.4800dup ENSP00000419988.2:p.Ala1601CysfsTer?
ENST00000478531.6:c.1566dup ENSP00000420412.2:p.Ala523CysfsTer?
ENST00000489037.2:c.4800dup ENSP00000420781.2:p.Ala1601CysfsTer?
ENST00000493919.6:c.1428dup ENSP00000418819.2:p.Ala477CysfsTer?
ENST00000494123.6:c.4878dup ENSP00000419103.2:p.Ala1627CysfsTer?
ENST00000497488.2:c.3990dup ENSP00000418986.2:p.Ala1331CysfsTer?
ENST00000618469.2:c.4878dup ENSP00000478114.2:p.Ala1627CysfsTer?
ENST00000634433.2:c.4755dup ENSP00000489431.2:p.Ala1586CysfsTer?
ENST00000644379.2:c.4944dup ENSP00000496570.2:p.Ala1649CysfsTer?
ENST00000644555.2:c.1428dup ENSP00000494614.2:p.Ala477CysfsTer?
ENST00000652672.2:c.4737dup ENSP00000498906.2:p.Ala1580CysfsTer?
ENST00000484087.6:c.1440dup ENSP00000419481.2:p.Ala481CysfsTer?
ENST00000700182.1:c.1485dup ENSP00000514849.1:p.Ala496CysfsTer?
ENST00000357654.9:c.4878dup MANE Select ENSP00000350283.3:p.Ala1627CysfsTer?
ENST00000471181.7:c.4941dup ENSP00000418960.2:p.Ala1648CysfsTer?
ENST00000644379.1:c.1265dup
ENST00000352993.7:c.1452dup ENSP00000312236.5:p.Ala485CysfsTer?
ENST00000357654.7:c.4878dup ENSP00000350283.3:p.Ala1627CysfsTer?
ENST00000461221.5:c.*4661dup ENSP00000418548.1:n.*4661dup
ENST00000468300.5:c.1566dup ENSP00000417148.1:p.Ala523CysfsTer?
ENST00000471181.6:c.4941dup ENSP00000418960.2:p.Ala1648CysfsTer?
ENST00000472490.1:n.31dup
ENST00000478531.5:c.1566dup ENSP00000420412.1:p.Ala523CysfsTer?
ENST00000484087.5:c.1191dup ENSP00000419481.1:p.Ala398CysfsTer?
ENST00000491747.6:c.1566dup ENSP00000420705.2:p.Ala523CysfsTer?
ENST00000493795.5:c.4737dup ENSP00000418775.1:p.Ala1580CysfsTer?
ENST00000493919.5:c.1428dup ENSP00000418819.1:p.Ala477CysfsTer?
ENST00000586385.5:c.5-7085dup ENSP00000465818.1:n.5-7085dup
ENST00000591534.5:c.351dup ENSP00000467329.1:p.Ala118CysfsTer?
ENST00000591849.5:c.-98-20846dup ENSP00000465347.1:n.-98-20846dup
NM_007294.3:c.4878dup , LRG_292t1:c.4878dup NP_009225.1:p.Ala1627CysfsTer?
NM_007297.3:c.4737dup NP_009228.2:p.Ala1580CysfsTer?
NM_007298.3:c.1566dup NP_009229.2:p.Ala523CysfsTer?
NM_007299.3:c.1566dup NP_009230.2:p.Ala523CysfsTer?
NM_007300.3:c.4941dup NP_009231.2:p.Ala1648CysfsTer?
NR_027676.1:n.5014dup
NM_007294.4:c.4878dup MANE Select NP_009225.1:p.Ala1627CysfsTer?
NM_007297.4:c.4737dup NP_009228.2:p.Ala1580CysfsTer?
NM_007299.4:c.1566dup NP_009230.2:p.Ala523CysfsTer?
NM_007300.4:c.4941dup NP_009231.2:p.Ala1648CysfsTer?
NR_027676.2:n.5055dup