Canonical Allele Identifier: CA913188891

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 927208
• ClinVar RCV Id: RCV001190326 ; RCV002560080
• dbSNP Id: rs2053962732

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094242_43094257del , CM000679.2:g.43094242_43094257del	GRCh38
NC_000017.10:g.41246259_41246274del , CM000679.1:g.41246259_41246274del	GRCh37
NC_000017.9:g.38499785_38499800del	NCBI36
NG_005905.2:g.123730_123745del , LRG_292:g.123730_123745del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1341_1356del
ENST00000461574.2:c.1277_1292del	ENSP00000417241.2:p.Ser426TyrfsTer10
ENST00000470026.6:c.1277_1292del	ENSP00000419274.2:p.Ser426TyrfsTer10
ENST00000473961.6:c.1151_1166del	ENSP00000420201.2:p.Ser384TyrfsTer10
ENST00000476777.6:c.1274_1289del	ENSP00000417554.2:p.Ser425TyrfsTer10
ENST00000477152.6:c.1199_1214del	ENSP00000419988.2:p.Ser400TyrfsTer10
ENST00000478531.6:c.784+490_784+505del	ENSP00000420412.2:n.784+490_784+505del
ENST00000489037.2:c.1199_1214del	ENSP00000420781.2:p.Ser400TyrfsTer10
ENST00000493919.6:c.646+490_646+505del	ENSP00000418819.2:n.646+490_646+505del
ENST00000494123.6:c.1277_1292del	ENSP00000419103.2:p.Ser426TyrfsTer10
ENST00000497488.2:c.389_404del	ENSP00000418986.2:p.Ser130TyrfsTer10
ENST00000618469.2:c.1277_1292del	ENSP00000478114.2:p.Ser426TyrfsTer10
ENST00000634433.2:c.1154_1169del	ENSP00000489431.2:p.Ser385TyrfsTer10
ENST00000644379.2:c.1277_1292del	ENSP00000496570.2:p.Ser426TyrfsTer10
ENST00000644555.2:c.646+490_646+505del	ENSP00000494614.2:n.646+490_646+505del
ENST00000652672.2:c.1136_1151del	ENSP00000498906.2:p.Ser379TyrfsTer10
ENST00000484087.6:c.664+490_664+505del	ENSP00000419481.2:n.664+490_664+505del
ENST00000700182.1:c.706+490_706+505del	ENSP00000514849.1:n.706+490_706+505del
ENST00000700183.1:c.*1285_*1300del	ENSP00000514850.1:n.*1285_*1300del
ENST00000357654.9:c.1277_1292del MANE Select	ENSP00000350283.3:p.Ser426TyrfsTer10
ENST00000471181.7:c.1277_1292del	ENSP00000418960.2:p.Ser426TyrfsTer10
ENST00000652672.1:c.1136_1151del	ENSP00000498906.1:p.Ser379TyrfsTer10
ENST00000352993.7:c.670+1592_670+1607del	ENSP00000312236.5:n.670+1592_670+1607del
ENST00000354071.7:c.1277_1292del	ENSP00000326002.7:p.Ser426TyrfsTer10
ENST00000357654.7:c.1277_1292del	ENSP00000350283.3:p.Ser426TyrfsTer10
ENST00000412061.3:c.628_643del
ENST00000461221.5:c.*1060_*1075del	ENSP00000418548.1:n.*1060_*1075del
ENST00000468300.5:c.787+490_787+505del	ENSP00000417148.1:n.787+490_787+505del
ENST00000470026.5:c.1277_1292del	ENSP00000419274.1:p.Ser426TyrfsTer10
ENST00000471181.6:c.1277_1292del	ENSP00000418960.2:p.Ser426TyrfsTer10
ENST00000473961.5:c.874_889del
ENST00000477152.5:c.1199_1214del	ENSP00000419988.1:p.Ser400TyrfsTer10
ENST00000478531.5:c.784+490_784+505del	ENSP00000420412.1:n.784+490_784+505del
ENST00000484087.5:c.409+490_409+505del	ENSP00000419481.1:n.409+490_409+505del
ENST00000487825.5:c.412+490_412+505del	ENSP00000418212.1:n.412+490_412+505del
ENST00000491747.6:c.787+490_787+505del	ENSP00000420705.2:n.787+490_787+505del
ENST00000492859.5:c.*1213_*1228del	ENSP00000420253.1:n.*1213_*1228del
ENST00000493795.5:c.1136_1151del	ENSP00000418775.1:p.Ser379TyrfsTer10
ENST00000493919.5:c.646+490_646+505del	ENSP00000418819.1:n.646+490_646+505del
ENST00000494123.5:c.1277_1292del	ENSP00000419103.1:p.Ser426TyrfsTer10
ENST00000497488.1:c.389_404del	ENSP00000418986.1:p.Ser130TyrfsTer10
ENST00000586385.5:c.5-30303_5-30288del	ENSP00000465818.1:n.5-30303_5-30288del
ENST00000591534.5:c.-43-19733_-43-19718del	ENSP00000467329.1:n.-43-19733_-43-19718de...
ENST00000591849.5:c.-99+31017_-99+31032del	ENSP00000465347.1:n.-99+31017_-99+31032de...
ENST00000634433.1:c.1154_1169del	ENSP00000489431.1:p.Ser385TyrfsTer10
NM_007294.3:c.1277_1292del , LRG_292t1:c.1277_1292del	NP_009225.1:p.Ser426TyrfsTer10
NM_007297.3:c.1136_1151del	NP_009228.2:p.Ser379TyrfsTer10
NM_007298.3:c.787+490_787+505del	NP_009229.2:n.787+490_787+505del
NM_007299.3:c.787+490_787+505del	NP_009230.2:n.787+490_787+505del
NM_007300.3:c.1277_1292del	NP_009231.2:p.Ser426TyrfsTer10
NR_027676.1:n.1413_1428del
NM_007294.4:c.1277_1292del MANE Select	NP_009225.1:p.Ser426TyrfsTer10
NM_007297.4:c.1136_1151del	NP_009228.2:p.Ser379TyrfsTer10
NM_007299.4:c.787+490_787+505del	NP_009230.2:n.787+490_787+505del
NM_007300.4:c.1277_1292del	NP_009231.2:p.Ser426TyrfsTer10
NR_027676.2:n.1454_1469del