Canonical Allele Identifier: CA10589589
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045769dup , CM000679.2:g.43045769dup GRCh38
NC_000017.10:g.41197786dup , CM000679.1:g.41197786dup GRCh37
NC_000017.9:g.38451312dup NCBI36
NG_005905.2:g.172217dup , LRG_292:g.172217dup

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5503dup MANE Select NP_009225.1:p.Arg1835ProfsTer?
ENST00000357654.9:c.5503dup MANE Select ENSP00000350283.3:p.Arg1835ProfsTer?
NM_007294.3:c.5503dup , LRG_292t1:c.5503dup NP_009225.1:p.Arg1835ProfsTer?
NM_007297.3:c.5362dup NP_009228.2:p.Arg1788ProfsTer?
NM_007297.4:c.5362dup NP_009228.2:p.Arg1788ProfsTer?
NM_007298.3:c.2191dup NP_009229.2:p.Arg731ProfsTer?
NM_007299.3:c.*17dup NP_009230.2:n.*17dup
NM_007299.4:c.*17dup NP_009230.2:n.*17dup
NM_007300.3:c.5566dup NP_009231.2:p.Arg1856ProfsTer?
NM_007300.4:c.5566dup NP_009231.2:p.Arg1856ProfsTer?
NR_027676.1:n.5639dup
NR_027676.2:n.5680dup
ENST00000352993.7:c.2077dup ENSP00000312236.5:p.Arg693ProfsTer?
ENST00000357654.7:c.5503dup ENSP00000350283.3:p.Arg1835ProfsTer?
ENST00000461221.5:c.*5286dup ENSP00000418548.1:n.*5286dup
ENST00000461574.2:c.5500dup ENSP00000417241.2:p.Arg1834ProfsTer?
ENST00000468300.5:c.*17dup ENSP00000417148.1:n.*17dup
ENST00000470026.6:c.5503dup ENSP00000419274.2:p.Arg1835ProfsTer?
ENST00000471181.6:c.5566dup ENSP00000418960.2:p.Arg1856ProfsTer?
ENST00000471181.7:c.5566dup ENSP00000418960.2:p.Arg1856ProfsTer?
ENST00000473961.6:c.5377dup ENSP00000420201.2:p.Arg1793ProfsTer?
ENST00000476777.6:c.5497dup ENSP00000417554.2:p.Arg1833ProfsTer?
ENST00000477152.6:c.5425dup ENSP00000419988.2:p.Arg1809ProfsTer?
ENST00000478531.6:c.2191dup ENSP00000420412.2:p.Arg731ProfsTer?
ENST00000484087.6:c.2065dup ENSP00000419481.2:p.Arg689ProfsTer?
ENST00000489037.2:c.5425dup ENSP00000420781.2:p.Arg1809ProfsTer?
ENST00000491747.6:c.2191dup ENSP00000420705.2:p.Arg731ProfsTer?
ENST00000493795.5:c.5362dup ENSP00000418775.1:p.Arg1788ProfsTer?
ENST00000493919.6:c.2053dup ENSP00000418819.2:p.Arg685ProfsTer?
ENST00000494123.6:c.5503dup ENSP00000419103.2:p.Arg1835ProfsTer?
ENST00000497488.2:c.4615dup ENSP00000418986.2:p.Arg1539ProfsTer?
ENST00000586385.5:c.433dup ENSP00000465818.1:p.Arg145ProfsTer?
ENST00000591534.5:c.976dup ENSP00000467329.1:p.Arg326ProfsTer?
ENST00000591849.5:c.202dup ENSP00000465347.1:p.Arg68ProfsTer?
ENST00000618469.2:c.5503dup ENSP00000478114.2:p.Arg1835ProfsTer?
ENST00000634433.2:c.5380dup ENSP00000489431.2:p.Arg1794ProfsTer?
ENST00000644379.1:c.1890dup
ENST00000644379.2:c.5569dup ENSP00000496570.2:p.Arg1857ProfsTer?
ENST00000644555.2:c.2053dup ENSP00000494614.2:p.Arg685ProfsTer?
ENST00000652672.2:c.5362dup ENSP00000498906.2:p.Arg1788ProfsTer?
ENST00000700081.1:n.1386dup
ENST00000700082.1:n.867dup