Canonical Allele Identifier: CA348034
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219511
dbSNP Id: rs864622132

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071205dup , CM000679.2:g.43071205dup GRCh38
NC_000017.10:g.41223222dup , CM000679.1:g.41223222dup GRCh37
NC_000017.9:g.38476748dup NCBI36
NG_005905.2:g.146779dup , LRG_292:g.146779dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4706dup ENSP00000417241.2:p.Phe1570LeufsTer3
ENST00000470026.6:c.4709dup ENSP00000419274.2:p.Phe1571LeufsTer3
ENST00000473961.6:c.4583dup ENSP00000420201.2:p.Phe1529LeufsTer3
ENST00000476777.6:c.4703dup ENSP00000417554.2:p.Phe1569LeufsTer3
ENST00000477152.6:c.4631dup ENSP00000419988.2:p.Phe1545LeufsTer3
ENST00000478531.6:c.1397dup ENSP00000420412.2:p.Phe467LeufsTer3
ENST00000489037.2:c.4631dup ENSP00000420781.2:p.Phe1545LeufsTer3
ENST00000493919.6:c.1259dup ENSP00000418819.2:p.Phe421LeufsTer3
ENST00000494123.6:c.4709dup ENSP00000419103.2:p.Phe1571LeufsTer3
ENST00000497488.2:c.3821dup ENSP00000418986.2:p.Phe1275LeufsTer3
ENST00000618469.2:c.4709dup ENSP00000478114.2:p.Phe1571LeufsTer3
ENST00000634433.2:c.4586dup ENSP00000489431.2:p.Phe1530LeufsTer3
ENST00000644379.2:c.4775dup ENSP00000496570.2:p.Phe1593LeufsTer3
ENST00000644555.2:c.1259dup ENSP00000494614.2:p.Phe421LeufsTer3
ENST00000652672.2:c.4568dup ENSP00000498906.2:p.Phe1524LeufsTer3
ENST00000484087.6:c.1271dup ENSP00000419481.2:p.Phe425LeufsTer3
ENST00000700182.1:c.1316dup ENSP00000514849.1:p.Phe440LeufsTer3
ENST00000357654.9:c.4709dup MANE Select ENSP00000350283.3:p.Phe1571LeufsTer3
ENST00000471181.7:c.4772dup ENSP00000418960.2:p.Phe1592LeufsTer3
ENST00000644379.1:c.1096dup
ENST00000352993.7:c.1283dup ENSP00000312236.5:p.Phe429LeufsTer3
ENST00000357654.7:c.4709dup ENSP00000350283.3:p.Phe1571LeufsTer3
ENST00000461221.5:c.*4492dup ENSP00000418548.1:n.*4492dup
ENST00000468300.5:c.1397dup ENSP00000417148.1:p.Phe467LeufsTer3
ENST00000471181.6:c.4772dup ENSP00000418960.2:p.Phe1592LeufsTer3
ENST00000478531.5:c.1397dup ENSP00000420412.1:p.Phe467LeufsTer3
ENST00000484087.5:c.1022dup ENSP00000419481.1:p.Phe342LeufsTer3
ENST00000491747.6:c.1397dup ENSP00000420705.2:p.Phe467LeufsTer3
ENST00000493795.5:c.4568dup ENSP00000418775.1:p.Phe1524LeufsTer3
ENST00000493919.5:c.1259dup ENSP00000418819.1:p.Phe421LeufsTer3
ENST00000586385.5:c.5-7254dup ENSP00000465818.1:n.5-7254dup
ENST00000591534.5:c.182dup ENSP00000467329.1:p.Phe62LeufsTer3
ENST00000591849.5:c.-98-21015dup ENSP00000465347.1:n.-98-21015dup
NM_007294.3:c.4709dup , LRG_292t1:c.4709dup NP_009225.1:p.Phe1571LeufsTer3
NM_007297.3:c.4568dup NP_009228.2:p.Phe1524LeufsTer3
NM_007298.3:c.1397dup NP_009229.2:p.Phe467LeufsTer3
NM_007299.3:c.1397dup NP_009230.2:p.Phe467LeufsTer3
NM_007300.3:c.4772dup NP_009231.2:p.Phe1592LeufsTer3
NR_027676.1:n.4845dup
NM_007294.4:c.4709dup MANE Select NP_009225.1:p.Phe1571LeufsTer3
NM_007297.4:c.4568dup NP_009228.2:p.Phe1524LeufsTer3
NM_007299.4:c.1397dup NP_009230.2:p.Phe467LeufsTer3
NM_007300.4:c.4772dup NP_009231.2:p.Phe1592LeufsTer3
NR_027676.2:n.4886dup