Canonical Allele Identifier: CA003581

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37669
• ClinVar RCV Id: RCV000031250 ; RCV000571365 ; RCV001390966 ; RCV003224858
• dbSNP Id: rs80357558
• MyVariant Identifiers: chr17:g.41199710del (hg19) ; chr17:g.43047693del (hg38)
• PubMed: PMID:26023681

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047695del , CM000679.2:g.43047695del	GRCh38
NC_000017.10:g.41199712del , CM000679.1:g.41199712del	GRCh37
NC_000017.9:g.38453238del	NCBI36
NG_005905.2:g.170291del , LRG_292:g.170291del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5414del	ENSP00000417241.2:p.Pro1805GlnfsTer28
ENST00000470026.6:c.5417del	ENSP00000419274.2:p.Pro1806GlnfsTer28
ENST00000473961.6:c.5291del	ENSP00000420201.2:p.Pro1764GlnfsTer28
ENST00000476777.6:c.5411del	ENSP00000417554.2:p.Pro1804GlnfsTer28
ENST00000477152.6:c.5339del	ENSP00000419988.2:p.Pro1780GlnfsTer28
ENST00000478531.6:c.2105del	ENSP00000420412.2:p.Pro702GlnfsTer28
ENST00000489037.2:c.5339del	ENSP00000420781.2:p.Pro1780GlnfsTer28
ENST00000493919.6:c.1967del	ENSP00000418819.2:p.Pro656GlnfsTer28
ENST00000494123.6:c.5417del	ENSP00000419103.2:p.Pro1806GlnfsTer28
ENST00000497488.2:c.4529del	ENSP00000418986.2:p.Pro1510GlnfsTer28
ENST00000618469.2:c.5417del	ENSP00000478114.2:p.Pro1806GlnfsTer28
ENST00000634433.2:c.5294del	ENSP00000489431.2:p.Pro1765GlnfsTer28
ENST00000644379.2:c.5483del	ENSP00000496570.2:p.Pro1828GlnfsTer28
ENST00000644555.2:c.1967del	ENSP00000494614.2:p.Pro656GlnfsTer28
ENST00000652672.2:c.5276del	ENSP00000498906.2:p.Pro1759GlnfsTer28
ENST00000484087.6:c.1979del	ENSP00000419481.2:p.Pro660GlnfsTer28
ENST00000700081.1:n.1300del
ENST00000700082.1:n.781del
ENST00000357654.9:c.5417del MANE Select	ENSP00000350283.3:p.Pro1806GlnfsTer28
ENST00000471181.7:c.5480del	ENSP00000418960.2:p.Pro1827GlnfsTer28
ENST00000644379.1:c.1804del
ENST00000352993.7:c.1991del	ENSP00000312236.5:p.Pro664GlnfsTer28
ENST00000357654.7:c.5417del	ENSP00000350283.3:p.Pro1806GlnfsTer28
ENST00000461221.5:c.*5200del	ENSP00000418548.1:n.*5200del
ENST00000468300.5:c.2031del	ENSP00000417148.1:p.Asn678IlefsTer?
ENST00000471181.6:c.5480del	ENSP00000418960.2:p.Pro1827GlnfsTer28
ENST00000491747.6:c.2105del	ENSP00000420705.2:p.Pro702GlnfsTer28
ENST00000493795.5:c.5276del	ENSP00000418775.1:p.Pro1759GlnfsTer28
ENST00000586385.5:c.347del	ENSP00000465818.1:p.Pro116GlnfsTer28
ENST00000591534.5:c.890del	ENSP00000467329.1:p.Pro297GlnfsTer28
ENST00000591849.5:c.116del	ENSP00000465347.1:p.Pro39GlnfsTer28
NM_007294.3:c.5417del , LRG_292t1:c.5417del	NP_009225.1:p.Pro1806GlnfsTer28
NM_007297.3:c.5276del	NP_009228.2:p.Pro1759GlnfsTer28
NM_007298.3:c.2105del	NP_009229.2:p.Pro702GlnfsTer28
NM_007299.3:c.2031del	NP_009230.2:p.Asn678IlefsTer?
NM_007300.3:c.5480del	NP_009231.2:p.Pro1827GlnfsTer28
NR_027676.1:n.5553del
NM_007294.4:c.5417del MANE Select	NP_009225.1:p.Pro1806GlnfsTer28
NM_007297.4:c.5276del	NP_009228.2:p.Pro1759GlnfsTer28
NM_007299.4:c.2031del	NP_009230.2:p.Asn678IlefsTer?
NM_007300.4:c.5480del	NP_009231.2:p.Pro1827GlnfsTer28
NR_027676.2:n.5594del