Canonical Allele Identifier: CA2733676210

Gene: BRCA1

Linked Data

• dbSNP Id: rs1555591774

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094117_43094118del , CM000679.2:g.43094117_43094118del	GRCh38
NC_000017.10:g.41246134_41246135del , CM000679.1:g.41246134_41246135del	GRCh37
NC_000017.9:g.38499660_38499661del	NCBI36
NG_005905.2:g.123868_123869del , LRG_292:g.123868_123869del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1479_1480del
ENST00000461574.2:c.1415_1416del	ENSP00000417241.2:p.Pro472GlnfsTer7
ENST00000470026.6:c.1415_1416del	ENSP00000419274.2:p.Pro472GlnfsTer7
ENST00000473961.6:c.1289_1290del	ENSP00000420201.2:p.Pro430GlnfsTer7
ENST00000476777.6:c.1412_1413del	ENSP00000417554.2:p.Pro471GlnfsTer7
ENST00000477152.6:c.1337_1338del	ENSP00000419988.2:p.Pro446GlnfsTer7
ENST00000478531.6:c.784+628_784+629del	ENSP00000420412.2:n.784+628_784+629del
ENST00000489037.2:c.1337_1338del	ENSP00000420781.2:p.Pro446GlnfsTer7
ENST00000493919.6:c.646+628_646+629del	ENSP00000418819.2:n.646+628_646+629del
ENST00000494123.6:c.1415_1416del	ENSP00000419103.2:p.Pro472GlnfsTer7
ENST00000497488.2:c.527_528del	ENSP00000418986.2:p.Pro176GlnfsTer7
ENST00000618469.2:c.1415_1416del	ENSP00000478114.2:p.Pro472GlnfsTer7
ENST00000634433.2:c.1292_1293del	ENSP00000489431.2:p.Pro431GlnfsTer7
ENST00000644379.2:c.1415_1416del	ENSP00000496570.2:p.Pro472GlnfsTer7
ENST00000644555.2:c.646+628_646+629del	ENSP00000494614.2:n.646+628_646+629del
ENST00000652672.2:c.1274_1275del	ENSP00000498906.2:p.Pro425GlnfsTer7
ENST00000484087.6:c.664+628_664+629del	ENSP00000419481.2:n.664+628_664+629del
ENST00000700182.1:c.706+628_706+629del	ENSP00000514849.1:n.706+628_706+629del
ENST00000700183.1:c.*1423_*1424del	ENSP00000514850.1:n.*1423_*1424del
ENST00000357654.9:c.1415_1416del MANE Select	ENSP00000350283.3:p.Pro472GlnfsTer7
ENST00000471181.7:c.1415_1416del	ENSP00000418960.2:p.Pro472GlnfsTer7
ENST00000652672.1:c.1274_1275del	ENSP00000498906.1:p.Pro425GlnfsTer7
ENST00000352993.7:c.670+1730_670+1731del	ENSP00000312236.5:n.670+1730_670+1731del
ENST00000354071.7:c.1415_1416del	ENSP00000326002.7:p.Pro472GlnfsTer7
ENST00000357654.7:c.1415_1416del	ENSP00000350283.3:p.Pro472GlnfsTer7
ENST00000412061.3:c.766_767del
ENST00000461221.5:c.*1198_*1199del	ENSP00000418548.1:n.*1198_*1199del
ENST00000468300.5:c.787+628_787+629del	ENSP00000417148.1:n.787+628_787+629del
ENST00000470026.5:c.1415_1416del	ENSP00000419274.1:p.Pro472GlnfsTer7
ENST00000471181.6:c.1415_1416del	ENSP00000418960.2:p.Pro472GlnfsTer7
ENST00000477152.5:c.1337_1338del	ENSP00000419988.1:p.Pro446GlnfsTer7
ENST00000478531.5:c.784+628_784+629del	ENSP00000420412.1:n.784+628_784+629del
ENST00000484087.5:c.409+628_409+629del	ENSP00000419481.1:n.409+628_409+629del
ENST00000487825.5:c.412+628_412+629del	ENSP00000418212.1:n.412+628_412+629del
ENST00000491747.6:c.787+628_787+629del	ENSP00000420705.2:n.787+628_787+629del
ENST00000492859.5:c.*1351_*1352del	ENSP00000420253.1:n.*1351_*1352del
ENST00000493795.5:c.1274_1275del	ENSP00000418775.1:p.Pro425GlnfsTer7
ENST00000493919.5:c.646+628_646+629del	ENSP00000418819.1:n.646+628_646+629del
ENST00000494123.5:c.1415_1416del	ENSP00000419103.1:p.Pro472GlnfsTer?
ENST00000497488.1:c.527_528del	ENSP00000418986.1:p.Pro176GlnfsTer?
ENST00000586385.5:c.5-30165_5-30164del	ENSP00000465818.1:n.5-30165_5-30164del
ENST00000591534.5:c.-43-19595_-43-19594del	ENSP00000467329.1:n.-43-19595_-43-19594de...
ENST00000591849.5:c.-99+31155_-99+31156del	ENSP00000465347.1:n.-99+31155_-99+31156de...
ENST00000634433.1:c.1292_1293del	ENSP00000489431.1:p.Pro431GlnfsTer7
NM_007294.3:c.1415_1416del , LRG_292t1:c.1415_1416del	NP_009225.1:p.Pro472GlnfsTer7
NM_007297.3:c.1274_1275del	NP_009228.2:p.Pro425GlnfsTer7
NM_007298.3:c.787+628_787+629del	NP_009229.2:n.787+628_787+629del
NM_007299.3:c.787+628_787+629del	NP_009230.2:n.787+628_787+629del
NM_007300.3:c.1415_1416del	NP_009231.2:p.Pro472GlnfsTer7
NR_027676.1:n.1551_1552del
NM_007294.4:c.1415_1416del MANE Select	NP_009225.1:p.Pro472GlnfsTer7
NM_007297.4:c.1274_1275del	NP_009228.2:p.Pro425GlnfsTer7
NM_007299.4:c.787+628_787+629del	NP_009230.2:n.787+628_787+629del
NM_007300.4:c.1415_1416del	NP_009231.2:p.Pro472GlnfsTer7
NR_027676.2:n.1592_1593del