Canonical Allele Identifier: CA2499224528

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1069423
• ClinVar RCV Id: RCV001381287
• dbSNP Id: rs2154404837

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093533_43093534del , CM000679.2:g.43093533_43093534del	GRCh38
NC_000017.10:g.41245550_41245551del , CM000679.1:g.41245550_41245551del	GRCh37
NC_000017.9:g.38499076_38499077del	NCBI36
NG_005905.2:g.124450_124451del , LRG_292:g.124450_124451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2061_2062del
ENST00000461574.2:c.1997_1998del	ENSP00000417241.2:p.Leu666ProfsTer6
ENST00000470026.6:c.1997_1998del	ENSP00000419274.2:p.Leu666ProfsTer6
ENST00000473961.6:c.1871_1872del	ENSP00000420201.2:p.Leu624ProfsTer6
ENST00000476777.6:c.1994_1995del	ENSP00000417554.2:p.Leu665ProfsTer6
ENST00000477152.6:c.1919_1920del	ENSP00000419988.2:p.Leu640ProfsTer6
ENST00000478531.6:c.784+1210_784+1211del	ENSP00000420412.2:n.784+1210_784+1211del
ENST00000489037.2:c.1919_1920del	ENSP00000420781.2:p.Leu640ProfsTer6
ENST00000493919.6:c.646+1210_646+1211del	ENSP00000418819.2:n.646+1210_646+1211del
ENST00000494123.6:c.1997_1998del	ENSP00000419103.2:p.Leu666ProfsTer6
ENST00000497488.2:c.1109_1110del	ENSP00000418986.2:p.Leu370ProfsTer6
ENST00000618469.2:c.1997_1998del	ENSP00000478114.2:p.Leu666ProfsTer6
ENST00000634433.2:c.1874_1875del	ENSP00000489431.2:p.Leu625ProfsTer6
ENST00000644379.2:c.1997_1998del	ENSP00000496570.2:p.Leu666ProfsTer6
ENST00000644555.2:c.646+1210_646+1211del	ENSP00000494614.2:n.646+1210_646+1211del
ENST00000652672.2:c.1856_1857del	ENSP00000498906.2:p.Leu619ProfsTer6
ENST00000484087.6:c.664+1210_664+1211del	ENSP00000419481.2:n.664+1210_664+1211del
ENST00000700182.1:c.706+1210_706+1211del	ENSP00000514849.1:n.706+1210_706+1211del
ENST00000357654.9:c.1997_1998del MANE Select	ENSP00000350283.3:p.Leu666ProfsTer6
ENST00000471181.7:c.1997_1998del	ENSP00000418960.2:p.Leu666ProfsTer6
ENST00000352993.7:c.670+2312_670+2313del	ENSP00000312236.5:n.670+2312_670+2313del
ENST00000354071.7:c.1997_1998del	ENSP00000326002.7:p.Leu666ProfsTer6
ENST00000357654.7:c.1997_1998del	ENSP00000350283.3:p.Leu666ProfsTer6
ENST00000461221.5:c.*1780_*1781del	ENSP00000418548.1:n.*1780_*1781del
ENST00000468300.5:c.787+1210_787+1211del	ENSP00000417148.1:n.787+1210_787+1211del
ENST00000471181.6:c.1997_1998del	ENSP00000418960.2:p.Leu666ProfsTer6
ENST00000478531.5:c.784+1210_784+1211del	ENSP00000420412.1:n.784+1210_784+1211del
ENST00000484087.5:c.409+1210_409+1211del	ENSP00000419481.1:n.409+1210_409+1211del
ENST00000487825.5:c.412+1210_412+1211del	ENSP00000418212.1:n.412+1210_412+1211del
ENST00000491747.6:c.787+1210_787+1211del	ENSP00000420705.2:n.787+1210_787+1211del
ENST00000493795.5:c.1856_1857del	ENSP00000418775.1:p.Leu619ProfsTer6
ENST00000493919.5:c.646+1210_646+1211del	ENSP00000418819.1:n.646+1210_646+1211del
ENST00000586385.5:c.5-29583_5-29582del	ENSP00000465818.1:n.5-29583_5-29582del
ENST00000591534.5:c.-43-19013_-43-19012del	ENSP00000467329.1:n.-43-19013_-43-19012del
ENST00000591849.5:c.-99+31737_-99+31738del	ENSP00000465347.1:n.-99+31737_-99+31738del
ENST00000634433.1:c.1874_1875del	ENSP00000489431.1:p.Leu625ProfsTer6
NM_007294.3:c.1997_1998del , LRG_292t1:c.1997_1998del	NP_009225.1:p.Leu666ProfsTer6
NM_007297.3:c.1856_1857del	NP_009228.2:p.Leu619ProfsTer6
NM_007298.3:c.787+1210_787+1211del	NP_009229.2:n.787+1210_787+1211del
NM_007299.3:c.787+1210_787+1211del	NP_009230.2:n.787+1210_787+1211del
NM_007300.3:c.1997_1998del	NP_009231.2:p.Leu666ProfsTer6
NR_027676.1:n.2133_2134del
NM_007294.4:c.1997_1998del MANE Select	NP_009225.1:p.Leu666ProfsTer6
NM_007297.4:c.1856_1857del	NP_009228.2:p.Leu619ProfsTer6
NM_007299.4:c.787+1210_787+1211del	NP_009230.2:n.787+1210_787+1211del
NM_007300.4:c.1997_1998del	NP_009231.2:p.Leu666ProfsTer6
NR_027676.2:n.2174_2175del