Canonical Allele Identifier: CA2580093786

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1748398
• ClinVar RCV Id: RCV002344727

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045676_43045691del , CM000679.2:g.43045676_43045691del	GRCh38
NC_000017.10:g.41197693_41197708del , CM000679.1:g.41197693_41197708del	GRCh37
NC_000017.9:g.38451219_38451234del	NCBI36
NG_005905.2:g.172293_172308del , LRG_292:g.172293_172308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5576_*2del	ENSP00000417241.2:n.[c.5576_*2del;His1859ArgfsTer?]
ENST00000470026.6:c.5579_*2del	ENSP00000419274.2:n.[c.5579_*2del;His1860ArgfsTer?]
ENST00000473961.6:c.5453_*2del	ENSP00000420201.2:n.[c.5453_*2del;His1818ArgfsTer?]
ENST00000476777.6:c.5573_*2del	ENSP00000417554.2:n.[c.5573_*2del;His1858ArgfsTer?]
ENST00000477152.6:c.5501_*2del	ENSP00000419988.2:n.[c.5501_*2del;His1834ArgfsTer?]
ENST00000478531.6:c.2267_*2del	ENSP00000420412.2:n.[c.2267_*2del;His756ArgfsTer?]
ENST00000489037.2:c.5501_*2del	ENSP00000420781.2:n.[c.5501_*2del;His1834ArgfsTer?]
ENST00000493919.6:c.2129_*2del	ENSP00000418819.2:n.[c.2129_*2del;His710ArgfsTer?]
ENST00000494123.6:c.5579_*2del	ENSP00000419103.2:n.[c.5579_*2del;His1860ArgfsTer?]
ENST00000497488.2:c.4691_*2del	ENSP00000418986.2:n.[c.4691_*2del;His1564ArgfsTer?]
ENST00000618469.2:c.5579_*2del	ENSP00000478114.2:n.[c.5579_*2del;His1860ArgfsTer?]
ENST00000634433.2:c.5456_*2del	ENSP00000489431.2:n.[c.5456_*2del;His1819ArgfsTer?]
ENST00000644379.2:c.5645_*2del	ENSP00000496570.2:n.[c.5645_*2del;His1882ArgfsTer?]
ENST00000644555.2:c.2129_*2del	ENSP00000494614.2:n.[c.2129_*2del;His710ArgfsTer?]
ENST00000652672.2:c.5438_*2del	ENSP00000498906.2:n.[c.5438_*2del;His1813ArgfsTer?]
ENST00000484087.6:c.2141_*2del	ENSP00000419481.2:n.[c.2141_*2del;His714ArgfsTer?]
ENST00000700081.1:n.1462_1477del
ENST00000700082.1:n.943_958del
ENST00000357654.9:c.5579_*2del MANE Select	ENSP00000350283.3:n.[c.5579_*2del;His1860ArgfsTer?]
ENST00000471181.7:c.5642_*2del	ENSP00000418960.2:n.[c.5642_*2del;His1881ArgfsTer?]
ENST00000644379.1:c.1966_1981del
ENST00000352993.7:c.2153_*2del	ENSP00000312236.5:n.[c.2153_*2del;His718ArgfsTer?]
ENST00000357654.7:c.5579_*2del	ENSP00000350283.3:n.[c.5579_*2del;His1860ArgfsTer?]
ENST00000468300.5:c.*93_*108del	ENSP00000417148.1:n.*93_*108del
ENST00000471181.6:c.5642_*2del	ENSP00000418960.2:n.[c.5642_*2del;His1881ArgfsTer?]
ENST00000493795.5:c.5438_*2del	ENSP00000418775.1:n.[c.5438_*2del;His1813ArgfsTer?]
ENST00000586385.5:c.509_*2del	ENSP00000465818.1:n.[c.509_*2del;His170ArgfsTer?]
ENST00000591534.5:c.1052_*2del	ENSP00000467329.1:n.[c.1052_*2del;His351ArgfsTer?]
ENST00000591849.5:c.278_*2del	ENSP00000465347.1:n.[c.278_*2del;His93ArgfsTer?]
NM_007294.3:c.5579_*2del , LRG_292t1:c.5579_*2del	NP_009225.1:n.[c.5579_*2del;His1860ArgfsTer?]
NM_007297.3:c.5438_*2del	NP_009228.2:n.[c.5438_*2del;His1813ArgfsTer?]
NM_007298.3:c.2267_*2del	NP_009229.2:n.[c.2267_*2del;His756ArgfsTer?]
NM_007299.3:c.*93_*108del	NP_009230.2:n.*93_*108del
NM_007300.3:c.5642_*2del	NP_009231.2:n.[c.5642_*2del;His1881ArgfsTer?]
NR_027676.1:n.5715_5730del
NM_007294.4:c.5579_*2del MANE Select	NP_009225.1:n.[c.5579_*2del;His1860ArgfsTer?]
NM_007297.4:c.5438_*2del	NP_009228.2:n.[c.5438_*2del;His1813ArgfsTer?]
NM_007299.4:c.*93_*108del	NP_009230.2:n.*93_*108del
NM_007300.4:c.5642_*2del	NP_009231.2:n.[c.5642_*2del;His1881ArgfsTer?]
NR_027676.2:n.5756_5771del