Canonical Allele Identifier: CA658761288

Gene: BRCA1

Linked Data

• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094362_43094375del , CM000679.2:g.43094362_43094375del	GRCh38
NC_000017.10:g.41246379_41246392del , CM000679.1:g.41246379_41246392del	GRCh37
NC_000017.9:g.38499905_38499918del	NCBI36
NG_005905.2:g.123610_123623del , LRG_292:g.123610_123623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1221_1234del
ENST00000461574.2:c.1157_1170del	ENSP00000417241.2:p.Phe386Ter
ENST00000470026.6:c.1157_1170del	ENSP00000419274.2:p.Phe386Ter
ENST00000473961.6:c.1031_1044del	ENSP00000420201.2:p.Phe344Ter
ENST00000476777.6:c.1154_1167del	ENSP00000417554.2:p.Phe385Ter
ENST00000477152.6:c.1079_1092del	ENSP00000419988.2:p.Phe360Ter
ENST00000478531.6:c.784+370_784+383del	ENSP00000420412.2:n.784+370_784+383del
ENST00000489037.2:c.1079_1092del	ENSP00000420781.2:p.Phe360Ter
ENST00000493919.6:c.646+370_646+383del	ENSP00000418819.2:n.646+370_646+383del
ENST00000494123.6:c.1157_1170del	ENSP00000419103.2:p.Phe386Ter
ENST00000497488.2:c.269_282del	ENSP00000418986.2:p.Phe90Ter
ENST00000618469.2:c.1157_1170del	ENSP00000478114.2:p.Phe386Ter
ENST00000634433.2:c.1034_1047del	ENSP00000489431.2:p.Phe345Ter
ENST00000644379.2:c.1157_1170del	ENSP00000496570.2:p.Phe386Ter
ENST00000644555.2:c.646+370_646+383del	ENSP00000494614.2:n.646+370_646+383del
ENST00000652672.2:c.1016_1029del	ENSP00000498906.2:p.Phe339Ter
ENST00000484087.6:c.664+370_664+383del	ENSP00000419481.2:n.664+370_664+383del
ENST00000700182.1:c.706+370_706+383del	ENSP00000514849.1:n.706+370_706+383del
ENST00000700183.1:c.*1165_*1178del	ENSP00000514850.1:n.*1165_*1178del
ENST00000357654.9:c.1157_1170del MANE Select	ENSP00000350283.3:p.Phe386Ter
ENST00000471181.7:c.1157_1170del	ENSP00000418960.2:p.Phe386Ter
ENST00000652672.1:c.1016_1029del	ENSP00000498906.1:p.Phe339Ter
ENST00000352993.7:c.670+1472_670+1485del	ENSP00000312236.5:n.670+1472_670+1485del
ENST00000354071.7:c.1157_1170del	ENSP00000326002.7:p.Phe386Ter
ENST00000357654.7:c.1157_1170del	ENSP00000350283.3:p.Phe386Ter
ENST00000412061.3:c.508_521del
ENST00000461221.5:c.*940_*953del	ENSP00000418548.1:n.*940_*953del
ENST00000468300.5:c.787+370_787+383del	ENSP00000417148.1:n.787+370_787+383del
ENST00000470026.5:c.1157_1170del	ENSP00000419274.1:p.Phe386Ter
ENST00000471181.6:c.1157_1170del	ENSP00000418960.2:p.Phe386Ter
ENST00000473961.5:c.754_767del
ENST00000477152.5:c.1079_1092del	ENSP00000419988.1:p.Phe360Ter
ENST00000478531.5:c.784+370_784+383del	ENSP00000420412.1:n.784+370_784+383del
ENST00000484087.5:c.409+370_409+383del	ENSP00000419481.1:n.409+370_409+383del
ENST00000487825.5:c.412+370_412+383del	ENSP00000418212.1:n.412+370_412+383del
ENST00000491747.6:c.787+370_787+383del	ENSP00000420705.2:n.787+370_787+383del
ENST00000492859.5:c.*1093_*1106del	ENSP00000420253.1:n.*1093_*1106del
ENST00000493795.5:c.1016_1029del	ENSP00000418775.1:p.Phe339Ter
ENST00000493919.5:c.646+370_646+383del	ENSP00000418819.1:n.646+370_646+383del
ENST00000494123.5:c.1157_1170del	ENSP00000419103.1:p.Phe386Ter
ENST00000497488.1:c.269_282del	ENSP00000418986.1:p.Phe90Ter
ENST00000586385.5:c.5-30423_5-30410del	ENSP00000465818.1:n.5-30423_5-30410del
ENST00000591534.5:c.-43-19853_-43-19840del	ENSP00000467329.1:n.-43-19853_-43-19840del
ENST00000591849.5:c.-99+30897_-99+30910del	ENSP00000465347.1:n.-99+30897_-99+30910del
ENST00000634433.1:c.1034_1047del	ENSP00000489431.1:p.Phe345Ter
NM_007294.3:c.1157_1170del , LRG_292t1:c.1157_1170del	NP_009225.1:p.Phe386Ter
NM_007297.3:c.1016_1029del	NP_009228.2:p.Phe339Ter
NM_007298.3:c.787+370_787+383del	NP_009229.2:n.787+370_787+383del
NM_007299.3:c.787+370_787+383del	NP_009230.2:n.787+370_787+383del
NM_007300.3:c.1157_1170del	NP_009231.2:p.Phe386Ter
NR_027676.1:n.1293_1306del
NM_007294.4:c.1157_1170del MANE Select	NP_009225.1:p.Phe386Ter
NM_007297.4:c.1016_1029del	NP_009228.2:p.Phe339Ter
NM_007299.4:c.787+370_787+383del	NP_009230.2:n.787+370_787+383del
NM_007300.4:c.1157_1170del	NP_009231.2:p.Phe386Ter
NR_027676.2:n.1334_1347del