Canonical Allele Identifier: CA658656660
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 479217
ClinVar RCV Id: RCV000567170
dbSNP Id: rs1555588883

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092701_43092711delinsTTATCAAACTGGCTTATCTT , CM000679.2:g.43092701_43092711delinsTTATCAAACTGGCTTATCTT GRCh38
NC_000017.10:g.41244718_41244728delinsTTATCAAACTGGCTTATCTT , CM000679.1:g.41244718_41244728delinsTTATCAAACTGGCTTATCTT GRCh37
NC_000017.9:g.38498244_38498254delinsTTATCAAACTGGCTTATCTT NCBI36
NG_005905.2:g.125273_125283delinsAAGATAAGCCAGTTTGATAA , LRG_292:g.125273_125283delinsAAGATAAGCCAGTTTGATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2884_2894delinsAAGATAAGCCAGTTTGATAA
ENST00000461574.2:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000417241.2:p.Asp940GlufsTer3
ENST00000470026.6:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000419274.2:p.Asp940GlufsTer3
ENST00000473961.6:c.2694_2704delinsAAGATAAGCCAGTTTGATAA ENSP00000420201.2:p.Asp898GlufsTer3
ENST00000476777.6:c.2817_2827delinsAAGATAAGCCAGTTTGATAA ENSP00000417554.2:p.Asp939GlufsTer3
ENST00000477152.6:c.2742_2752delinsAAGATAAGCCAGTTTGATAA ENSP00000419988.2:p.Asp914GlufsTer3
ENST00000478531.6:c.785-1679_785-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000420412.2:n.785-1679_785-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000489037.2:c.2742_2752delinsAAGATAAGCCAGTTTGATAA ENSP00000420781.2:p.Asp914GlufsTer3
ENST00000493919.6:c.647-1679_647-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000418819.2:n.647-1679_647-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000494123.6:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000419103.2:p.Asp940GlufsTer3
ENST00000497488.2:c.1932_1942delinsAAGATAAGCCAGTTTGATAA ENSP00000418986.2:p.Asp644GlufsTer3
ENST00000618469.2:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000478114.2:p.Asp940GlufsTer3
ENST00000634433.2:c.2697_2707delinsAAGATAAGCCAGTTTGATAA ENSP00000489431.2:p.Asp899GlufsTer3
ENST00000644379.2:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000496570.2:p.Asp940GlufsTer3
ENST00000644555.2:c.647-1679_647-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000494614.2:n.647-1679_647-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000652672.2:c.2679_2689delinsAAGATAAGCCAGTTTGATAA ENSP00000498906.2:p.Asp893GlufsTer3
ENST00000484087.6:c.665-1679_665-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000419481.2:n.665-1679_665-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000700182.1:c.707-1679_707-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000514849.1:n.707-1679_707-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000357654.9:c.2820_2830delinsAAGATAAGCCAGTTTGATAA MANE Select ENSP00000350283.3:p.Asp940GlufsTer3
ENST00000471181.7:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000418960.2:p.Asp940GlufsTer3
ENST00000352993.7:c.671-1679_671-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000312236.5:n.671-1679_671-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000354071.7:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000326002.7:p.Asp940GlufsTer3
ENST00000357654.7:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000350283.3:p.Asp940GlufsTer3
ENST00000461221.5:c.*2603_*2613delinsAAGATAAGCCAGTTTGATAA ENSP00000418548.1:n.*2603_*2613delinsAAGATAAGCCAGTTTGATAA
ENST00000468300.5:c.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000417148.1:n.788-1679_788-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000471181.6:c.2820_2830delinsAAGATAAGCCAGTTTGATAA ENSP00000418960.2:p.Asp940GlufsTer3
ENST00000478531.5:c.785-1679_785-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000420412.1:n.785-1679_785-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000484087.5:c.410-1679_410-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000419481.1:n.410-1679_410-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000487825.5:c.413-1679_413-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000418212.1:n.413-1679_413-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000491747.6:c.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000420705.2:n.788-1679_788-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000493795.5:c.2679_2689delinsAAGATAAGCCAGTTTGATAA ENSP00000418775.1:p.Asp893GlufsTer3
ENST00000493919.5:c.647-1679_647-1669delinsAAGATAAGCCAGTTTGATAA ENSP00000418819.1:n.647-1679_647-1669delinsAAGATAAGCCAGTTTGAT...
ENST00000586385.5:c.5-28760_5-28750delinsAAGATAAGCCAGTTTGATAA ENSP00000465818.1:n.5-28760_5-28750delinsAAGATAAGCCAGTTTGATAA...
ENST00000591534.5:c.-43-18190_-43-18180delinsAAGATAAGCCAGTTTGATAA ENSP00000467329.1:n.-43-18190_-43-18180delinsAAGATAAGCCAGTTTG...
ENST00000591849.5:c.-99+32560_-99+32570delinsAAGATAAGCCAGTTTGATAA ENSP00000465347.1:n.-99+32560_-99+32570delinsAAGATAAGCCAGTTTG...
NM_007294.3:c.2820_2830delinsAAGATAAGCCAGTTTGATAA , LRG_292t1:c.2820_2830delinsAAGATAAGCCAGTTTGATAA NP_009225.1:p.Asp940GlufsTer3
NM_007297.3:c.2679_2689delinsAAGATAAGCCAGTTTGATAA NP_009228.2:p.Asp893GlufsTer3
NM_007298.3:c.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA NP_009229.2:n.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA
NM_007299.3:c.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA NP_009230.2:n.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA
NM_007300.3:c.2820_2830delinsAAGATAAGCCAGTTTGATAA NP_009231.2:p.Asp940GlufsTer3
NR_027676.1:n.2956_2966delinsAAGATAAGCCAGTTTGATAA
NM_007294.4:c.2820_2830delinsAAGATAAGCCAGTTTGATAA MANE Select NP_009225.1:p.Asp940GlufsTer3
NM_007297.4:c.2679_2689delinsAAGATAAGCCAGTTTGATAA NP_009228.2:p.Asp893GlufsTer3
NM_007299.4:c.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA NP_009230.2:n.788-1679_788-1669delinsAAGATAAGCCAGTTTGATAA
NM_007300.4:c.2820_2830delinsAAGATAAGCCAGTTTGATAA NP_009231.2:p.Asp940GlufsTer3
NR_027676.2:n.2997_3007delinsAAGATAAGCCAGTTTGATAA