Canonical Allele Identifier: CA003475
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55525
dbSNP Id: rs397509262

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43051071_43051072del , CM000679.2:g.43051071_43051072del GRCh38
NC_000017.10:g.41203088_41203089del , CM000679.1:g.41203088_41203089del GRCh37
NC_000017.9:g.38456614_38456615del NCBI36
NG_005905.2:g.166912_166913del , LRG_292:g.166912_166913del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5320_5321del ENSP00000417241.2:p.Met1774AlafsTer?
ENST00000470026.6:c.5323_5324del ENSP00000419274.2:p.Met1775AlafsTer?
ENST00000473961.6:c.5197_5198del ENSP00000420201.2:p.Met1733AlafsTer?
ENST00000476777.6:c.5317_5318del ENSP00000417554.2:p.Met1773AlafsTer?
ENST00000477152.6:c.5245_5246del ENSP00000419988.2:p.Met1749AlafsTer?
ENST00000478531.6:c.2011_2012del ENSP00000420412.2:p.Met671AlafsTer?
ENST00000489037.2:c.5245_5246del ENSP00000420781.2:p.Met1749AlafsTer?
ENST00000493919.6:c.1873_1874del ENSP00000418819.2:p.Met625AlafsTer?
ENST00000494123.6:c.5323_5324del ENSP00000419103.2:p.Met1775AlafsTer?
ENST00000497488.2:c.4435_4436del ENSP00000418986.2:p.Met1479AlafsTer?
ENST00000618469.2:c.5323_5324del ENSP00000478114.2:p.Met1775AlafsTer?
ENST00000634433.2:c.5200_5201del ENSP00000489431.2:p.Met1734AlafsTer?
ENST00000644379.2:c.5389_5390del ENSP00000496570.2:p.Met1797AlafsTer?
ENST00000644555.2:c.1873_1874del ENSP00000494614.2:p.Met625AlafsTer?
ENST00000652672.2:c.5182_5183del ENSP00000498906.2:p.Met1728AlafsTer?
ENST00000484087.6:c.1885_1886del ENSP00000419481.2:p.Met629AlafsTer?
ENST00000357654.9:c.5323_5324del MANE Select ENSP00000350283.3:p.Met1775AlafsTer?
ENST00000471181.7:c.5386_5387del ENSP00000418960.2:p.Met1796AlafsTer?
ENST00000644379.1:c.1710_1711del
ENST00000352993.7:c.1897_1898del ENSP00000312236.5:p.Met633AlafsTer?
ENST00000357654.7:c.5323_5324del ENSP00000350283.3:p.Met1775AlafsTer?
ENST00000461221.5:c.*5106_*5107del ENSP00000418548.1:n.*5106_*5107del
ENST00000468300.5:c.2011_2012del ENSP00000417148.1:p.Met671AlafsTer?
ENST00000471181.6:c.5386_5387del ENSP00000418960.2:p.Met1796AlafsTer?
ENST00000491747.6:c.2011_2012del ENSP00000420705.2:p.Met671AlafsTer?
ENST00000493795.5:c.5182_5183del ENSP00000418775.1:p.Met1728AlafsTer?
ENST00000586385.5:c.253_254del ENSP00000465818.1:p.Met85AlafsTer?
ENST00000591534.5:c.796_797del ENSP00000467329.1:p.Met266AlafsTer?
ENST00000591849.5:c.-98-882_-98-881del ENSP00000465347.1:n.-98-882_-98-881del
NM_007294.3:c.5323_5324del , LRG_292t1:c.5323_5324del NP_009225.1:p.Met1775AlafsTer?
NM_007297.3:c.5182_5183del NP_009228.2:p.Met1728AlafsTer?
NM_007298.3:c.2011_2012del NP_009229.2:p.Met671AlafsTer?
NM_007299.3:c.2011_2012del NP_009230.2:p.Met671AlafsTer?
NM_007300.3:c.5386_5387del NP_009231.2:p.Met1796AlafsTer?
NR_027676.1:n.5459_5460del
NM_007294.4:c.5323_5324del MANE Select NP_009225.1:p.Met1775AlafsTer?
NM_007297.4:c.5182_5183del NP_009228.2:p.Met1728AlafsTer?
NM_007299.4:c.2011_2012del NP_009230.2:p.Met671AlafsTer?
NM_007300.4:c.5386_5387del NP_009231.2:p.Met1796AlafsTer?
NR_027676.2:n.5500_5501del