Canonical Allele Identifier: CA2260784859

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094371_43094373delinsGAA , CM000679.2:g.43094371_43094373delinsGAA	GRCh38
NC_000017.10:g.41246388_41246390delinsGAA , CM000679.1:g.41246388_41246390delinsGAA	GRCh37
NC_000017.9:g.38499914_38499916delinsGAA	NCBI36
NG_005905.2:g.123611_123613delinsTTC , LRG_292:g.123611_123613delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1222_1224delinsTTC
ENST00000461574.2:c.1158_1160delinsTTC	ENSP00000417241.2:p.Phe386=
ENST00000470026.6:c.1158_1160delinsTTC	ENSP00000419274.2:p.Phe386=
ENST00000473961.6:c.1032_1034delinsTTC	ENSP00000420201.2:p.Phe344=
ENST00000476777.6:c.1155_1157delinsTTC	ENSP00000417554.2:p.Phe385=
ENST00000477152.6:c.1080_1082delinsTTC	ENSP00000419988.2:p.Phe360=
ENST00000478531.6:c.784+371_784+373delinsTTC	ENSP00000420412.2:n.784+371_784+373delinsTTC
ENST00000489037.2:c.1080_1082delinsTTC	ENSP00000420781.2:p.Phe360=
ENST00000493919.6:c.646+371_646+373delinsTTC	ENSP00000418819.2:n.646+371_646+373delinsTTC
ENST00000494123.6:c.1158_1160delinsTTC	ENSP00000419103.2:p.Phe386=
ENST00000497488.2:c.270_272delinsTTC	ENSP00000418986.2:p.Phe90=
ENST00000618469.2:c.1158_1160delinsTTC	ENSP00000478114.2:p.Phe386=
ENST00000634433.2:c.1035_1037delinsTTC	ENSP00000489431.2:p.Phe345=
ENST00000644379.2:c.1158_1160delinsTTC	ENSP00000496570.2:p.Phe386=
ENST00000644555.2:c.646+371_646+373delinsTTC	ENSP00000494614.2:n.646+371_646+373delinsTTC
ENST00000652672.2:c.1017_1019delinsTTC	ENSP00000498906.2:p.Phe339=
ENST00000484087.6:c.664+371_664+373delinsTTC	ENSP00000419481.2:n.664+371_664+373delinsTTC
ENST00000700182.1:c.706+371_706+373delinsTTC	ENSP00000514849.1:n.706+371_706+373delinsTTC
ENST00000700183.1:c.*1166_*1168delinsTTC	ENSP00000514850.1:n.*1166_*1168delinsTTC
ENST00000357654.9:c.1158_1160delinsTTC MANE Select	ENSP00000350283.3:p.Phe386=
ENST00000471181.7:c.1158_1160delinsTTC	ENSP00000418960.2:p.Phe386=
ENST00000652672.1:c.1017_1019delinsTTC	ENSP00000498906.1:p.Phe339=
ENST00000352993.7:c.670+1473_670+1475delinsTTC	ENSP00000312236.5:n.670+1473_670+1475delinsTTC
ENST00000354071.7:c.1158_1160delinsTTC	ENSP00000326002.7:p.Phe386=
ENST00000357654.7:c.1158_1160delinsTTC	ENSP00000350283.3:p.Phe386=
ENST00000412061.3:c.509_511delinsTTC
ENST00000461221.5:c.*941_*943delinsTTC	ENSP00000418548.1:n.*941_*943delinsTTC
ENST00000468300.5:c.787+371_787+373delinsTTC	ENSP00000417148.1:n.787+371_787+373delinsTTC
ENST00000470026.5:c.1158_1160delinsTTC	ENSP00000419274.1:p.Phe386=
ENST00000471181.6:c.1158_1160delinsTTC	ENSP00000418960.2:p.Phe386=
ENST00000473961.5:c.755_757delinsTTC
ENST00000477152.5:c.1080_1082delinsTTC	ENSP00000419988.1:p.Phe360=
ENST00000478531.5:c.784+371_784+373delinsTTC	ENSP00000420412.1:n.784+371_784+373delinsTTC
ENST00000484087.5:c.409+371_409+373delinsTTC	ENSP00000419481.1:n.409+371_409+373delinsTTC
ENST00000487825.5:c.412+371_412+373delinsTTC	ENSP00000418212.1:n.412+371_412+373delinsTTC
ENST00000491747.6:c.787+371_787+373delinsTTC	ENSP00000420705.2:n.787+371_787+373delinsTTC
ENST00000492859.5:c.*1094_*1096delinsTTC	ENSP00000420253.1:n.*1094_*1096delinsTTC
ENST00000493795.5:c.1017_1019delinsTTC	ENSP00000418775.1:p.Phe339=
ENST00000493919.5:c.646+371_646+373delinsTTC	ENSP00000418819.1:n.646+371_646+373delinsTTC
ENST00000494123.5:c.1158_1160delinsTTC	ENSP00000419103.1:p.Phe386=
ENST00000497488.1:c.270_272delinsTTC	ENSP00000418986.1:p.Phe90=
ENST00000586385.5:c.5-30422_5-30420delinsTTC	ENSP00000465818.1:n.5-30422_5-30420delinsTTC
ENST00000591534.5:c.-43-19852_-43-19850delinsTTC	ENSP00000467329.1:n.-43-19852_-43-19850delinsTTC
ENST00000591849.5:c.-99+30898_-99+30900delinsTTC	ENSP00000465347.1:n.-99+30898_-99+30900delinsTTC
ENST00000634433.1:c.1035_1037delinsTTC	ENSP00000489431.1:p.Phe345=
NM_007294.3:c.1158_1160delinsTTC , LRG_292t1:c.1158_1160delinsTTC	NP_009225.1:p.Phe386=
NM_007297.3:c.1017_1019delinsTTC	NP_009228.2:p.Phe339=
NM_007298.3:c.787+371_787+373delinsTTC	NP_009229.2:n.787+371_787+373delinsTTC
NM_007299.3:c.787+371_787+373delinsTTC	NP_009230.2:n.787+371_787+373delinsTTC
NM_007300.3:c.1158_1160delinsTTC	NP_009231.2:p.Phe386=
NR_027676.1:n.1294_1296delinsTTC
NM_007294.4:c.1158_1160delinsTTC MANE Select	NP_009225.1:p.Phe386=
NM_007297.4:c.1017_1019delinsTTC	NP_009228.2:p.Phe339=
NM_007299.4:c.787+371_787+373delinsTTC	NP_009230.2:n.787+371_787+373delinsTTC
NM_007300.4:c.1158_1160delinsTTC	NP_009231.2:p.Phe386=
NR_027676.2:n.1335_1337delinsTTC