Canonical Allele Identifier: CA2260784827

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094324_43094331delinsACTCCCCA , CM000679.2:g.43094324_43094331delinsACTCCCCA	GRCh38
NC_000017.10:g.41246341_41246348delinsACTCCCCA , CM000679.1:g.41246341_41246348delinsACTCCCCA	GRCh37
NC_000017.9:g.38499867_38499874delinsACTCCCCA	NCBI36
NG_005905.2:g.123653_123660delinsTGGGGAGT , LRG_292:g.123653_123660delinsTGGGGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1264_1271delinsTGGGGAGT
ENST00000461574.2:c.1200_1207delinsTGGGGAGT	ENSP00000417241.2:p.Asp400=
ENST00000470026.6:c.1200_1207delinsTGGGGAGT	ENSP00000419274.2:p.Asp400=
ENST00000473961.6:c.1074_1081delinsTGGGGAGT	ENSP00000420201.2:p.Asp358=
ENST00000476777.6:c.1197_1204delinsTGGGGAGT	ENSP00000417554.2:p.Asp399=
ENST00000477152.6:c.1122_1129delinsTGGGGAGT	ENSP00000419988.2:p.Asp374=
ENST00000478531.6:c.784+413_784+420delinsTGGGGAGT	ENSP00000420412.2:n.784+413_784+420delinsTGGGGAGT
ENST00000489037.2:c.1122_1129delinsTGGGGAGT	ENSP00000420781.2:p.Asp374=
ENST00000493919.6:c.646+413_646+420delinsTGGGGAGT	ENSP00000418819.2:n.646+413_646+420delinsTGGGGAGT
ENST00000494123.6:c.1200_1207delinsTGGGGAGT	ENSP00000419103.2:p.Asp400=
ENST00000497488.2:c.312_319delinsTGGGGAGT	ENSP00000418986.2:p.Asp104=
ENST00000618469.2:c.1200_1207delinsTGGGGAGT	ENSP00000478114.2:p.Asp400=
ENST00000634433.2:c.1077_1084delinsTGGGGAGT	ENSP00000489431.2:p.Asp359=
ENST00000644379.2:c.1200_1207delinsTGGGGAGT	ENSP00000496570.2:p.Asp400=
ENST00000644555.2:c.646+413_646+420delinsTGGGGAGT	ENSP00000494614.2:n.646+413_646+420delinsTGGGGAGT
ENST00000652672.2:c.1059_1066delinsTGGGGAGT	ENSP00000498906.2:p.Asp353=
ENST00000484087.6:c.664+413_664+420delinsTGGGGAGT	ENSP00000419481.2:n.664+413_664+420delinsTGGGGAGT
ENST00000700182.1:c.706+413_706+420delinsTGGGGAGT	ENSP00000514849.1:n.706+413_706+420delinsTGGGGAGT
ENST00000700183.1:c.*1208_*1215delinsTGGGGAGT	ENSP00000514850.1:n.*1208_*1215delinsTGGGGAGT
ENST00000357654.9:c.1200_1207delinsTGGGGAGT MANE Select	ENSP00000350283.3:p.Asp400=
ENST00000471181.7:c.1200_1207delinsTGGGGAGT	ENSP00000418960.2:p.Asp400=
ENST00000652672.1:c.1059_1066delinsTGGGGAGT	ENSP00000498906.1:p.Asp353=
ENST00000352993.7:c.670+1515_670+1522delinsTGGGGAGT	ENSP00000312236.5:n.670+1515_670+1522delinsTGGGGAGT
ENST00000354071.7:c.1200_1207delinsTGGGGAGT	ENSP00000326002.7:p.Asp400=
ENST00000357654.7:c.1200_1207delinsTGGGGAGT	ENSP00000350283.3:p.Asp400=
ENST00000412061.3:c.551_558delinsTGGGGAGT
ENST00000461221.5:c.*983_*990delinsTGGGGAGT	ENSP00000418548.1:n.*983_*990delinsTGGGGAGT
ENST00000468300.5:c.787+413_787+420delinsTGGGGAGT	ENSP00000417148.1:n.787+413_787+420delinsTGGGGAGT
ENST00000470026.5:c.1200_1207delinsTGGGGAGT	ENSP00000419274.1:p.Asp400=
ENST00000471181.6:c.1200_1207delinsTGGGGAGT	ENSP00000418960.2:p.Asp400=
ENST00000473961.5:c.797_804delinsTGGGGAGT
ENST00000477152.5:c.1122_1129delinsTGGGGAGT	ENSP00000419988.1:p.Asp374=
ENST00000478531.5:c.784+413_784+420delinsTGGGGAGT	ENSP00000420412.1:n.784+413_784+420delinsTGGGGAGT
ENST00000484087.5:c.409+413_409+420delinsTGGGGAGT	ENSP00000419481.1:n.409+413_409+420delinsTGGGGAGT
ENST00000487825.5:c.412+413_412+420delinsTGGGGAGT	ENSP00000418212.1:n.412+413_412+420delinsTGGGGAGT
ENST00000491747.6:c.787+413_787+420delinsTGGGGAGT	ENSP00000420705.2:n.787+413_787+420delinsTGGGGAGT
ENST00000492859.5:c.*1136_*1143delinsTGGGGAGT	ENSP00000420253.1:n.*1136_*1143delinsTGGGGAGT
ENST00000493795.5:c.1059_1066delinsTGGGGAGT	ENSP00000418775.1:p.Asp353=
ENST00000493919.5:c.646+413_646+420delinsTGGGGAGT	ENSP00000418819.1:n.646+413_646+420delinsTGGGGAGT
ENST00000494123.5:c.1200_1207delinsTGGGGAGT	ENSP00000419103.1:p.Asp400=
ENST00000497488.1:c.312_319delinsTGGGGAGT	ENSP00000418986.1:p.Asp104=
ENST00000586385.5:c.5-30380_5-30373delinsTGGGGAGT	ENSP00000465818.1:n.5-30380_5-30373delinsTGGGGAGT
ENST00000591534.5:c.-43-19810_-43-19803delinsTGGGGAGT	ENSP00000467329.1:n.-43-19810_-43-19803delinsTGGGGAGT
ENST00000591849.5:c.-99+30940_-99+30947delinsTGGGGAGT	ENSP00000465347.1:n.-99+30940_-99+30947delinsTGGGGAGT
ENST00000634433.1:c.1077_1084delinsTGGGGAGT	ENSP00000489431.1:p.Asp359=
NM_007294.3:c.1200_1207delinsTGGGGAGT , LRG_292t1:c.1200_1207delinsTGGGGAGT	NP_009225.1:p.Asp400=
NM_007297.3:c.1059_1066delinsTGGGGAGT	NP_009228.2:p.Asp353=
NM_007298.3:c.787+413_787+420delinsTGGGGAGT	NP_009229.2:n.787+413_787+420delinsTGGGGAGT
NM_007299.3:c.787+413_787+420delinsTGGGGAGT	NP_009230.2:n.787+413_787+420delinsTGGGGAGT
NM_007300.3:c.1200_1207delinsTGGGGAGT	NP_009231.2:p.Asp400=
NR_027676.1:n.1336_1343delinsTGGGGAGT
NM_007294.4:c.1200_1207delinsTGGGGAGT MANE Select	NP_009225.1:p.Asp400=
NM_007297.4:c.1059_1066delinsTGGGGAGT	NP_009228.2:p.Asp353=
NM_007299.4:c.787+413_787+420delinsTGGGGAGT	NP_009230.2:n.787+413_787+420delinsTGGGGAGT
NM_007300.4:c.1200_1207delinsTGGGGAGT	NP_009231.2:p.Asp400=
NR_027676.2:n.1377_1384delinsTGGGGAGT