Canonical Allele Identifier: CA003413

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55492
• ClinVar RCV Id: RCV000577380 ; RCV000661129
• dbSNP Id: rs397509248
• MyVariant Identifiers: chr17:g.41209070_41209076del (hg19) ; chr17:g.43057053_43057059del (hg38)
• PubMed: PMID:9150151

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057053_43057059del , CM000679.2:g.43057053_43057059del	GRCh38
NC_000017.10:g.41209070_41209076del , CM000679.1:g.41209070_41209076del	GRCh37
NC_000017.9:g.38462596_38462602del	NCBI36
NG_005905.2:g.160925_160931del , LRG_292:g.160925_160931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5267_5273del	ENSP00000417241.2:p.Asp1756GlyfsTer6
ENST00000470026.6:c.5270_5276del	ENSP00000419274.2:p.Asp1757GlyfsTer6
ENST00000473961.6:c.5144_5150del	ENSP00000420201.2:p.Asp1715GlyfsTer6
ENST00000476777.6:c.5264_5270del	ENSP00000417554.2:p.Asp1755GlyfsTer6
ENST00000477152.6:c.5192_5198del	ENSP00000419988.2:p.Asp1731GlyfsTer6
ENST00000478531.6:c.1958_1964del	ENSP00000420412.2:p.Asp653GlyfsTer6
ENST00000489037.2:c.5192_5198del	ENSP00000420781.2:p.Asp1731GlyfsTer6
ENST00000493919.6:c.1820_1826del	ENSP00000418819.2:p.Asp607GlyfsTer6
ENST00000494123.6:c.5270_5276del	ENSP00000419103.2:p.Asp1757GlyfsTer6
ENST00000497488.2:c.4382_4388del	ENSP00000418986.2:p.Asp1461GlyfsTer6
ENST00000618469.2:c.5270_5276del	ENSP00000478114.2:p.Asp1757GlyfsTer6
ENST00000634433.2:c.5147_5153del	ENSP00000489431.2:p.Asp1716GlyfsTer6
ENST00000644379.2:c.5336_5342del	ENSP00000496570.2:p.Asp1779GlyfsTer6
ENST00000644555.2:c.1820_1826del	ENSP00000494614.2:p.Asp607GlyfsTer6
ENST00000652672.2:c.5129_5135del	ENSP00000498906.2:p.Asp1710GlyfsTer6
ENST00000484087.6:c.1832_1838del	ENSP00000419481.2:p.Asp611GlyfsTer6
ENST00000357654.9:c.5270_5276del MANE Select	ENSP00000350283.3:p.Asp1757GlyfsTer6
ENST00000471181.7:c.5333_5339del	ENSP00000418960.2:p.Asp1778GlyfsTer6
ENST00000644379.1:c.1657_1663del
ENST00000352993.7:c.1844_1850del	ENSP00000312236.5:p.Asp615GlyfsTer6
ENST00000357654.7:c.5270_5276del	ENSP00000350283.3:p.Asp1757GlyfsTer6
ENST00000461221.5:c.*5053_*5059del	ENSP00000418548.1:n.*5053_*5059del
ENST00000468300.5:c.1958_1964del	ENSP00000417148.1:p.Asp653GlyfsTer6
ENST00000471181.6:c.5333_5339del	ENSP00000418960.2:p.Asp1778GlyfsTer6
ENST00000491747.6:c.1958_1964del	ENSP00000420705.2:p.Asp653GlyfsTer6
ENST00000493795.5:c.5129_5135del	ENSP00000418775.1:p.Asp1710GlyfsTer6
ENST00000586385.5:c.200_206del	ENSP00000465818.1:p.Asp67GlyfsTer6
ENST00000591534.5:c.743_749del	ENSP00000467329.1:p.Asp248GlyfsTer6
ENST00000591849.5:c.-98-6869_-98-6863del	ENSP00000465347.1:n.-98-6869_-98-6863del
NM_007294.3:c.5270_5276del , LRG_292t1:c.5270_5276del	NP_009225.1:p.Asp1757GlyfsTer6
NM_007297.3:c.5129_5135del	NP_009228.2:p.Asp1710GlyfsTer6
NM_007298.3:c.1958_1964del	NP_009229.2:p.Asp653GlyfsTer6
NM_007299.3:c.1958_1964del	NP_009230.2:p.Asp653GlyfsTer6
NM_007300.3:c.5333_5339del	NP_009231.2:p.Asp1778GlyfsTer6
NR_027676.1:n.5406_5412del
NM_007294.4:c.5270_5276del MANE Select	NP_009225.1:p.Asp1757GlyfsTer6
NM_007297.4:c.5129_5135del	NP_009228.2:p.Asp1710GlyfsTer6
NM_007299.4:c.1958_1964del	NP_009230.2:p.Asp653GlyfsTer6
NM_007300.4:c.5333_5339del	NP_009231.2:p.Asp1778GlyfsTer6
NR_027676.2:n.5447_5453del