Canonical Allele Identifier: CA003661

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045780del , CM000679.2:g.43045780del	GRCh38
NC_000017.10:g.41197797del , CM000679.1:g.41197797del	GRCh37
NC_000017.9:g.38451323del	NCBI36
NG_005905.2:g.172204del , LRG_292:g.172204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5487del	ENSP00000417241.2:p.Pro1830LeufsTer3
ENST00000470026.6:c.5490del	ENSP00000419274.2:p.Pro1831LeufsTer3
ENST00000473961.6:c.5364del	ENSP00000420201.2:p.Pro1789LeufsTer3
ENST00000476777.6:c.5484del	ENSP00000417554.2:p.Pro1829LeufsTer3
ENST00000477152.6:c.5412del	ENSP00000419988.2:p.Pro1805LeufsTer3
ENST00000478531.6:c.2178del	ENSP00000420412.2:p.Pro727LeufsTer3
ENST00000489037.2:c.5412del	ENSP00000420781.2:p.Pro1805LeufsTer3
ENST00000493919.6:c.2040del	ENSP00000418819.2:p.Pro681LeufsTer3
ENST00000494123.6:c.5490del	ENSP00000419103.2:p.Pro1831LeufsTer3
ENST00000497488.2:c.4602del	ENSP00000418986.2:p.Pro1535LeufsTer3
ENST00000618469.2:c.5490del	ENSP00000478114.2:p.Pro1831LeufsTer3
ENST00000634433.2:c.5367del	ENSP00000489431.2:p.Pro1790LeufsTer3
ENST00000644379.2:c.5556del	ENSP00000496570.2:p.Pro1853LeufsTer3
ENST00000644555.2:c.2040del	ENSP00000494614.2:p.Pro681LeufsTer3
ENST00000652672.2:c.5349del	ENSP00000498906.2:p.Pro1784LeufsTer3
ENST00000484087.6:c.2052del	ENSP00000419481.2:p.Pro685LeufsTer3
ENST00000700081.1:n.1373del
ENST00000700082.1:n.854del
ENST00000357654.9:c.5490del MANE Select	ENSP00000350283.3:p.Pro1831LeufsTer3
ENST00000471181.7:c.5553del	ENSP00000418960.2:p.Pro1852LeufsTer3
ENST00000644379.1:c.1877del
ENST00000352993.7:c.2064del	ENSP00000312236.5:p.Pro689LeufsTer3
ENST00000357654.7:c.5490del	ENSP00000350283.3:p.Pro1831LeufsTer3
ENST00000461221.5:c.*5273del	ENSP00000418548.1:n.*5273del
ENST00000468300.5:c.*4del	ENSP00000417148.1:n.*4del
ENST00000471181.6:c.5553del	ENSP00000418960.2:p.Pro1852LeufsTer3
ENST00000491747.6:c.2178del	ENSP00000420705.2:p.Pro727LeufsTer3
ENST00000493795.5:c.5349del	ENSP00000418775.1:p.Pro1784LeufsTer3
ENST00000586385.5:c.420del	ENSP00000465818.1:p.Pro141LeufsTer3
ENST00000591534.5:c.963del	ENSP00000467329.1:p.Pro322LeufsTer3
ENST00000591849.5:c.189del	ENSP00000465347.1:p.Pro64LeufsTer3
NM_007294.3:c.5490del , LRG_292t1:c.5490del	NP_009225.1:p.Pro1831LeufsTer3
NM_007297.3:c.5349del	NP_009228.2:p.Pro1784LeufsTer3
NM_007298.3:c.2178del	NP_009229.2:p.Pro727LeufsTer3
NM_007299.3:c.*4del	NP_009230.2:n.*4del
NM_007300.3:c.5553del	NP_009231.2:p.Pro1852LeufsTer3
NR_027676.1:n.5626del
NM_007294.4:c.5490del MANE Select	NP_009225.1:p.Pro1831LeufsTer3
NM_007297.4:c.5349del	NP_009228.2:p.Pro1784LeufsTer3
NM_007299.4:c.*4del	NP_009230.2:n.*4del
NM_007300.4:c.5553del	NP_009231.2:p.Pro1852LeufsTer3
NR_027676.2:n.5667del