Canonical Allele Identifier: CA001222

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54379
• ClinVar RCV Id: RCV000047618 ; RCV000077498 ; RCV000479237 ; RCV000510010
• dbSNP Id: rs80357567
• ExAC: 17:41245663 TACTG / T
• gnomAD v2: 17-41245663-TACTG-T
• MyVariant Identifiers: chr17:g.41245664_41245667del (hg19) ; chr17:g.43093647_43093650del (hg38)
• PubMed: PMID:10486320

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093650_43093653del , CM000679.2:g.43093650_43093653del	GRCh38
NC_000017.10:g.41245667_41245670del , CM000679.1:g.41245667_41245670del	GRCh37
NC_000017.9:g.38499193_38499196del	NCBI36
NG_005905.2:g.124334_124337del , LRG_292:g.124334_124337del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1945_1948del
ENST00000461574.2:c.1881_1884del	ENSP00000417241.2:p.Ser628GlufsTer3
ENST00000470026.6:c.1881_1884del	ENSP00000419274.2:p.Ser628GlufsTer3
ENST00000473961.6:c.1755_1758del	ENSP00000420201.2:p.Ser586GlufsTer3
ENST00000476777.6:c.1878_1881del	ENSP00000417554.2:p.Ser627GlufsTer3
ENST00000477152.6:c.1803_1806del	ENSP00000419988.2:p.Ser602GlufsTer3
ENST00000478531.6:c.784+1094_784+1097del	ENSP00000420412.2:n.784+1094_784+1097del
ENST00000489037.2:c.1803_1806del	ENSP00000420781.2:p.Ser602GlufsTer3
ENST00000493919.6:c.646+1094_646+1097del	ENSP00000418819.2:n.646+1094_646+1097del
ENST00000494123.6:c.1881_1884del	ENSP00000419103.2:p.Ser628GlufsTer3
ENST00000497488.2:c.993_996del	ENSP00000418986.2:p.Ser332GlufsTer3
ENST00000618469.2:c.1881_1884del	ENSP00000478114.2:p.Ser628GlufsTer3
ENST00000634433.2:c.1758_1761del	ENSP00000489431.2:p.Ser587GlufsTer3
ENST00000644379.2:c.1881_1884del	ENSP00000496570.2:p.Ser628GlufsTer3
ENST00000644555.2:c.646+1094_646+1097del	ENSP00000494614.2:n.646+1094_646+1097del
ENST00000652672.2:c.1740_1743del	ENSP00000498906.2:p.Ser581GlufsTer3
ENST00000484087.6:c.664+1094_664+1097del	ENSP00000419481.2:n.664+1094_664+1097del
ENST00000700182.1:c.706+1094_706+1097del	ENSP00000514849.1:n.706+1094_706+1097del
ENST00000357654.9:c.1881_1884del MANE Select	ENSP00000350283.3:p.Ser628GlufsTer3
ENST00000471181.7:c.1881_1884del	ENSP00000418960.2:p.Ser628GlufsTer3
ENST00000652672.1:c.1740_1743del	ENSP00000498906.1:p.Ser581GlufsTer3
ENST00000352993.7:c.670+2196_670+2199del	ENSP00000312236.5:n.670+2196_670+2199del
ENST00000354071.7:c.1881_1884del	ENSP00000326002.7:p.Ser628GlufsTer3
ENST00000357654.7:c.1881_1884del	ENSP00000350283.3:p.Ser628GlufsTer3
ENST00000412061.3:c.1232_1235del
ENST00000461221.5:c.*1664_*1667del	ENSP00000418548.1:n.*1664_*1667del
ENST00000468300.5:c.787+1094_787+1097del	ENSP00000417148.1:n.787+1094_787+1097del
ENST00000470026.5:c.1881_1884del	ENSP00000419274.1:p.Ser628GlufsTer3
ENST00000471181.6:c.1881_1884del	ENSP00000418960.2:p.Ser628GlufsTer3
ENST00000477152.5:c.1803_1806del	ENSP00000419988.1:p.Ser602GlufsTer3
ENST00000478531.5:c.784+1094_784+1097del	ENSP00000420412.1:n.784+1094_784+1097del
ENST00000484087.5:c.409+1094_409+1097del	ENSP00000419481.1:n.409+1094_409+1097del
ENST00000487825.5:c.412+1094_412+1097del	ENSP00000418212.1:n.412+1094_412+1097del
ENST00000491747.6:c.787+1094_787+1097del	ENSP00000420705.2:n.787+1094_787+1097del
ENST00000493795.5:c.1740_1743del	ENSP00000418775.1:p.Ser581GlufsTer3
ENST00000493919.5:c.646+1094_646+1097del	ENSP00000418819.1:n.646+1094_646+1097del
ENST00000586385.5:c.5-29699_5-29696del	ENSP00000465818.1:n.5-29699_5-29696del
ENST00000591534.5:c.-43-19129_-43-19126del	ENSP00000467329.1:n.-43-19129_-43-19126de...
ENST00000591849.5:c.-99+31621_-99+31624del	ENSP00000465347.1:n.-99+31621_-99+31624de...
ENST00000634433.1:c.1758_1761del	ENSP00000489431.1:p.Ser587GlufsTer3
NM_007294.3:c.1881_1884del , LRG_292t1:c.1881_1884del	NP_009225.1:p.Ser628GlufsTer3
NM_007297.3:c.1740_1743del	NP_009228.2:p.Ser581GlufsTer3
NM_007298.3:c.787+1094_787+1097del	NP_009229.2:n.787+1094_787+1097del
NM_007299.3:c.787+1094_787+1097del	NP_009230.2:n.787+1094_787+1097del
NM_007300.3:c.1881_1884del	NP_009231.2:p.Ser628GlufsTer3
NR_027676.1:n.2017_2020del
NM_007294.4:c.1881_1884del MANE Select	NP_009225.1:p.Ser628GlufsTer3
NM_007297.4:c.1740_1743del	NP_009228.2:p.Ser581GlufsTer3
NM_007299.4:c.787+1094_787+1097del	NP_009230.2:n.787+1094_787+1097del
NM_007300.4:c.1881_1884del	NP_009231.2:p.Ser628GlufsTer3
NR_027676.2:n.2058_2061del