Canonical Allele Identifier: CA2499224556

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094125_43094132del , CM000679.2:g.43094125_43094132del	GRCh38
NC_000017.10:g.41246142_41246149del , CM000679.1:g.41246142_41246149del	GRCh37
NC_000017.9:g.38499668_38499675del	NCBI36
NG_005905.2:g.123855_123862del , LRG_292:g.123855_123862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1466_1473del
ENST00000461574.2:c.1402_1409del	ENSP00000417241.2:p.Lys468ProfsTer9
ENST00000470026.6:c.1402_1409del	ENSP00000419274.2:p.Lys468ProfsTer9
ENST00000473961.6:c.1276_1283del	ENSP00000420201.2:p.Lys426ProfsTer9
ENST00000476777.6:c.1399_1406del	ENSP00000417554.2:p.Lys467ProfsTer9
ENST00000477152.6:c.1324_1331del	ENSP00000419988.2:p.Lys442ProfsTer9
ENST00000478531.6:c.784+615_784+622del	ENSP00000420412.2:n.784+615_784+622del
ENST00000489037.2:c.1324_1331del	ENSP00000420781.2:p.Lys442ProfsTer9
ENST00000493919.6:c.646+615_646+622del	ENSP00000418819.2:n.646+615_646+622del
ENST00000494123.6:c.1402_1409del	ENSP00000419103.2:p.Lys468ProfsTer9
ENST00000497488.2:c.514_521del	ENSP00000418986.2:p.Lys172ProfsTer9
ENST00000618469.2:c.1402_1409del	ENSP00000478114.2:p.Lys468ProfsTer9
ENST00000634433.2:c.1279_1286del	ENSP00000489431.2:p.Lys427ProfsTer9
ENST00000644379.2:c.1402_1409del	ENSP00000496570.2:p.Lys468ProfsTer9
ENST00000644555.2:c.646+615_646+622del	ENSP00000494614.2:n.646+615_646+622del
ENST00000652672.2:c.1261_1268del	ENSP00000498906.2:p.Lys421ProfsTer9
ENST00000484087.6:c.664+615_664+622del	ENSP00000419481.2:n.664+615_664+622del
ENST00000700182.1:c.706+615_706+622del	ENSP00000514849.1:n.706+615_706+622del
ENST00000700183.1:c.*1410_*1417del	ENSP00000514850.1:n.*1410_*1417del
ENST00000357654.9:c.1402_1409del MANE Select	ENSP00000350283.3:p.Lys468ProfsTer9
ENST00000471181.7:c.1402_1409del	ENSP00000418960.2:p.Lys468ProfsTer9
ENST00000652672.1:c.1261_1268del	ENSP00000498906.1:p.Lys421ProfsTer9
ENST00000352993.7:c.670+1717_670+1724del	ENSP00000312236.5:n.670+1717_670+1724del
ENST00000354071.7:c.1402_1409del	ENSP00000326002.7:p.Lys468ProfsTer9
ENST00000357654.7:c.1402_1409del	ENSP00000350283.3:p.Lys468ProfsTer9
ENST00000412061.3:c.753_760del
ENST00000461221.5:c.*1185_*1192del	ENSP00000418548.1:n.*1185_*1192del
ENST00000468300.5:c.787+615_787+622del	ENSP00000417148.1:n.787+615_787+622del
ENST00000470026.5:c.1402_1409del	ENSP00000419274.1:p.Lys468ProfsTer9
ENST00000471181.6:c.1402_1409del	ENSP00000418960.2:p.Lys468ProfsTer9
ENST00000477152.5:c.1324_1331del	ENSP00000419988.1:p.Lys442ProfsTer9
ENST00000478531.5:c.784+615_784+622del	ENSP00000420412.1:n.784+615_784+622del
ENST00000484087.5:c.409+615_409+622del	ENSP00000419481.1:n.409+615_409+622del
ENST00000487825.5:c.412+615_412+622del	ENSP00000418212.1:n.412+615_412+622del
ENST00000491747.6:c.787+615_787+622del	ENSP00000420705.2:n.787+615_787+622del
ENST00000492859.5:c.*1338_*1345del	ENSP00000420253.1:n.*1338_*1345del
ENST00000493795.5:c.1261_1268del	ENSP00000418775.1:p.Lys421ProfsTer9
ENST00000493919.5:c.646+615_646+622del	ENSP00000418819.1:n.646+615_646+622del
ENST00000494123.5:c.1402_1409del	ENSP00000419103.1:p.Lys468ProfsTer?
ENST00000497488.1:c.514_521del	ENSP00000418986.1:p.Lys172ProfsTer?
ENST00000586385.5:c.5-30178_5-30171del	ENSP00000465818.1:n.5-30178_5-30171del
ENST00000591534.5:c.-43-19608_-43-19601del	ENSP00000467329.1:n.-43-19608_-43-19601del
ENST00000591849.5:c.-99+31142_-99+31149del	ENSP00000465347.1:n.-99+31142_-99+31149del
ENST00000634433.1:c.1279_1286del	ENSP00000489431.1:p.Lys427ProfsTer9
NM_007294.3:c.1402_1409del , LRG_292t1:c.1402_1409del	NP_009225.1:p.Lys468ProfsTer9
NM_007297.3:c.1261_1268del	NP_009228.2:p.Lys421ProfsTer9
NM_007298.3:c.787+615_787+622del	NP_009229.2:n.787+615_787+622del
NM_007299.3:c.787+615_787+622del	NP_009230.2:n.787+615_787+622del
NM_007300.3:c.1402_1409del	NP_009231.2:p.Lys468ProfsTer9
NR_027676.1:n.1538_1545del
NM_007294.4:c.1402_1409del MANE Select	NP_009225.1:p.Lys468ProfsTer9
NM_007297.4:c.1261_1268del	NP_009228.2:p.Lys421ProfsTer9
NM_007299.4:c.787+615_787+622del	NP_009230.2:n.787+615_787+622del
NM_007300.4:c.1402_1409del	NP_009231.2:p.Lys468ProfsTer9
NR_027676.2:n.1579_1586del