Canonical Allele Identifier: CA913188847

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 628941
• ClinVar RCV Id: RCV000773608
• dbSNP Id: rs1567797748

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093623_43093632del , CM000679.2:g.43093623_43093632del	GRCh38
NC_000017.10:g.41245640_41245649del , CM000679.1:g.41245640_41245649del	GRCh37
NC_000017.9:g.38499166_38499175del	NCBI36
NG_005905.2:g.124354_124363del , LRG_292:g.124354_124363del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1965_1974del
ENST00000461574.2:c.1901_1910del	ENSP00000417241.2:p.Pro634LeufsTer14
ENST00000470026.6:c.1901_1910del	ENSP00000419274.2:p.Pro634LeufsTer14
ENST00000473961.6:c.1775_1784del	ENSP00000420201.2:p.Pro592LeufsTer14
ENST00000476777.6:c.1898_1907del	ENSP00000417554.2:p.Pro633LeufsTer14
ENST00000477152.6:c.1823_1832del	ENSP00000419988.2:p.Pro608LeufsTer14
ENST00000478531.6:c.784+1114_784+1123del	ENSP00000420412.2:n.784+1114_784+1123del
ENST00000489037.2:c.1823_1832del	ENSP00000420781.2:p.Pro608LeufsTer14
ENST00000493919.6:c.646+1114_646+1123del	ENSP00000418819.2:n.646+1114_646+1123del
ENST00000494123.6:c.1901_1910del	ENSP00000419103.2:p.Pro634LeufsTer14
ENST00000497488.2:c.1013_1022del	ENSP00000418986.2:p.Pro338LeufsTer14
ENST00000618469.2:c.1901_1910del	ENSP00000478114.2:p.Pro634LeufsTer14
ENST00000634433.2:c.1778_1787del	ENSP00000489431.2:p.Pro593LeufsTer14
ENST00000644379.2:c.1901_1910del	ENSP00000496570.2:p.Pro634LeufsTer14
ENST00000644555.2:c.646+1114_646+1123del	ENSP00000494614.2:n.646+1114_646+1123del
ENST00000652672.2:c.1760_1769del	ENSP00000498906.2:p.Pro587LeufsTer14
ENST00000484087.6:c.664+1114_664+1123del	ENSP00000419481.2:n.664+1114_664+1123del
ENST00000700182.1:c.706+1114_706+1123del	ENSP00000514849.1:n.706+1114_706+1123del
ENST00000357654.9:c.1901_1910del MANE Select	ENSP00000350283.3:p.Pro634LeufsTer14
ENST00000471181.7:c.1901_1910del	ENSP00000418960.2:p.Pro634LeufsTer14
ENST00000652672.1:c.1760_1769del	ENSP00000498906.1:p.Pro587LeufsTer?
ENST00000352993.7:c.670+2216_670+2225del	ENSP00000312236.5:n.670+2216_670+2225del
ENST00000354071.7:c.1901_1910del	ENSP00000326002.7:p.Pro634LeufsTer14
ENST00000357654.7:c.1901_1910del	ENSP00000350283.3:p.Pro634LeufsTer14
ENST00000412061.3:c.1252_1261del
ENST00000461221.5:c.*1684_*1693del	ENSP00000418548.1:n.*1684_*1693del
ENST00000468300.5:c.787+1114_787+1123del	ENSP00000417148.1:n.787+1114_787+1123del
ENST00000470026.5:c.1901_1910del	ENSP00000419274.1:p.Pro634LeufsTer?
ENST00000471181.6:c.1901_1910del	ENSP00000418960.2:p.Pro634LeufsTer14
ENST00000477152.5:c.1823_1832del	ENSP00000419988.1:p.Pro608LeufsTer?
ENST00000478531.5:c.784+1114_784+1123del	ENSP00000420412.1:n.784+1114_784+1123del
ENST00000484087.5:c.409+1114_409+1123del	ENSP00000419481.1:n.409+1114_409+1123del
ENST00000487825.5:c.412+1114_412+1123del	ENSP00000418212.1:n.412+1114_412+1123del
ENST00000491747.6:c.787+1114_787+1123del	ENSP00000420705.2:n.787+1114_787+1123del
ENST00000493795.5:c.1760_1769del	ENSP00000418775.1:p.Pro587LeufsTer14
ENST00000493919.5:c.646+1114_646+1123del	ENSP00000418819.1:n.646+1114_646+1123del
ENST00000586385.5:c.5-29679_5-29670del	ENSP00000465818.1:n.5-29679_5-29670del
ENST00000591534.5:c.-43-19109_-43-19100del	ENSP00000467329.1:n.-43-19109_-43-19100de...
ENST00000591849.5:c.-99+31641_-99+31650del	ENSP00000465347.1:n.-99+31641_-99+31650de...
ENST00000634433.1:c.1778_1787del	ENSP00000489431.1:p.Pro593LeufsTer14
NM_007294.3:c.1901_1910del , LRG_292t1:c.1901_1910del	NP_009225.1:p.Pro634LeufsTer14
NM_007297.3:c.1760_1769del	NP_009228.2:p.Pro587LeufsTer14
NM_007298.3:c.787+1114_787+1123del	NP_009229.2:n.787+1114_787+1123del
NM_007299.3:c.787+1114_787+1123del	NP_009230.2:n.787+1114_787+1123del
NM_007300.3:c.1901_1910del	NP_009231.2:p.Pro634LeufsTer14
NR_027676.1:n.2037_2046del
NM_007294.4:c.1901_1910del MANE Select	NP_009225.1:p.Pro634LeufsTer14
NM_007297.4:c.1760_1769del	NP_009228.2:p.Pro587LeufsTer14
NM_007299.4:c.787+1114_787+1123del	NP_009230.2:n.787+1114_787+1123del
NM_007300.4:c.1901_1910del	NP_009231.2:p.Pro634LeufsTer14
NR_027676.2:n.2078_2087del