Canonical Allele Identifier: CA10589582

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266563
• ClinVar RCV Id: RCV000257833
• dbSNP Id: rs886040304
• MyVariant Identifiers: chr17:g.41197736del (hg19) ; chr17:g.43045719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045720del , CM000679.2:g.43045720del	GRCh38
NC_000017.10:g.41197737del , CM000679.1:g.41197737del	GRCh37
NC_000017.9:g.38451263del	NCBI36
NG_005905.2:g.172265del , LRG_292:g.172265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5548del	ENSP00000417241.2:p.Asp1850ThrfsTer4
ENST00000470026.6:c.5551del	ENSP00000419274.2:p.Asp1851ThrfsTer4
ENST00000473961.6:c.5425del	ENSP00000420201.2:p.Asp1809ThrfsTer4
ENST00000476777.6:c.5545del	ENSP00000417554.2:p.Asp1849ThrfsTer4
ENST00000477152.6:c.5473del	ENSP00000419988.2:p.Asp1825ThrfsTer4
ENST00000478531.6:c.2239del	ENSP00000420412.2:p.Asp747ThrfsTer4
ENST00000489037.2:c.5473del	ENSP00000420781.2:p.Asp1825ThrfsTer4
ENST00000493919.6:c.2101del	ENSP00000418819.2:p.Asp701ThrfsTer4
ENST00000494123.6:c.5551del	ENSP00000419103.2:p.Asp1851ThrfsTer4
ENST00000497488.2:c.4663del	ENSP00000418986.2:p.Asp1555ThrfsTer4
ENST00000618469.2:c.5551del	ENSP00000478114.2:p.Asp1851ThrfsTer4
ENST00000634433.2:c.5428del	ENSP00000489431.2:p.Asp1810ThrfsTer4
ENST00000644379.2:c.5617del	ENSP00000496570.2:p.Asp1873ThrfsTer4
ENST00000644555.2:c.2101del	ENSP00000494614.2:p.Asp701ThrfsTer4
ENST00000652672.2:c.5410del	ENSP00000498906.2:p.Asp1804ThrfsTer4
ENST00000484087.6:c.2113del	ENSP00000419481.2:p.Asp705ThrfsTer4
ENST00000700081.1:n.1434del
ENST00000700082.1:n.915del
ENST00000357654.9:c.5551del MANE Select	ENSP00000350283.3:p.Asp1851ThrfsTer4
ENST00000471181.7:c.5614del	ENSP00000418960.2:p.Asp1872ThrfsTer4
ENST00000644379.1:c.1938del
ENST00000352993.7:c.2125del	ENSP00000312236.5:p.Asp709ThrfsTer4
ENST00000357654.7:c.5551del	ENSP00000350283.3:p.Asp1851ThrfsTer4
ENST00000461221.5:c.*5334del	ENSP00000418548.1:n.*5334del
ENST00000468300.5:c.*65del	ENSP00000417148.1:n.*65del
ENST00000471181.6:c.5614del	ENSP00000418960.2:p.Asp1872ThrfsTer4
ENST00000491747.6:c.2239del	ENSP00000420705.2:p.Asp747ThrfsTer4
ENST00000493795.5:c.5410del	ENSP00000418775.1:p.Asp1804ThrfsTer4
ENST00000586385.5:c.481del	ENSP00000465818.1:p.Asp161ThrfsTer4
ENST00000591534.5:c.1024del	ENSP00000467329.1:p.Asp342ThrfsTer4
ENST00000591849.5:c.250del	ENSP00000465347.1:p.Asp84ThrfsTer4
NM_007294.3:c.5551del , LRG_292t1:c.5551del	NP_009225.1:p.Asp1851ThrfsTer4
NM_007297.3:c.5410del	NP_009228.2:p.Asp1804ThrfsTer4
NM_007298.3:c.2239del	NP_009229.2:p.Asp747ThrfsTer4
NM_007299.3:c.*65del	NP_009230.2:n.*65del
NM_007300.3:c.5614del	NP_009231.2:p.Asp1872ThrfsTer4
NR_027676.1:n.5687del
NM_007294.4:c.5551del MANE Select	NP_009225.1:p.Asp1851ThrfsTer4
NM_007297.4:c.5410del	NP_009228.2:p.Asp1804ThrfsTer4
NM_007299.4:c.*65del	NP_009230.2:n.*65del
NM_007300.4:c.5614del	NP_009231.2:p.Asp1872ThrfsTer4
NR_027676.2:n.5728del