Canonical Allele Identifier: CA2260784900

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094407_43094409delinsAGT , CM000679.2:g.43094407_43094409delinsAGT	GRCh38
NC_000017.10:g.41246424_41246426delinsAGT , CM000679.1:g.41246424_41246426delinsAGT	GRCh37
NC_000017.9:g.38499950_38499952delinsAGT	NCBI36
NG_005905.2:g.123575_123577delinsACT , LRG_292:g.123575_123577delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1186_1188delinsACT
ENST00000461574.2:c.1122_1124delinsACT	ENSP00000417241.2:p.Thr374=
ENST00000470026.6:c.1122_1124delinsACT	ENSP00000419274.2:p.Thr374=
ENST00000473961.6:c.996_998delinsACT	ENSP00000420201.2:p.Thr332=
ENST00000476777.6:c.1119_1121delinsACT	ENSP00000417554.2:p.Thr373=
ENST00000477152.6:c.1044_1046delinsACT	ENSP00000419988.2:p.Thr348=
ENST00000478531.6:c.784+335_784+337delinsACT	ENSP00000420412.2:n.784+335_784+337delinsACT
ENST00000489037.2:c.1044_1046delinsACT	ENSP00000420781.2:p.Thr348=
ENST00000493919.6:c.646+335_646+337delinsACT	ENSP00000418819.2:n.646+335_646+337delinsACT
ENST00000494123.6:c.1122_1124delinsACT	ENSP00000419103.2:p.Thr374=
ENST00000497488.2:c.234_236delinsACT	ENSP00000418986.2:p.Thr78=
ENST00000618469.2:c.1122_1124delinsACT	ENSP00000478114.2:p.Thr374=
ENST00000634433.2:c.999_1001delinsACT	ENSP00000489431.2:p.Thr333=
ENST00000644379.2:c.1122_1124delinsACT	ENSP00000496570.2:p.Thr374=
ENST00000644555.2:c.646+335_646+337delinsACT	ENSP00000494614.2:n.646+335_646+337delinsACT
ENST00000652672.2:c.981_983delinsACT	ENSP00000498906.2:p.Thr327=
ENST00000484087.6:c.664+335_664+337delinsACT	ENSP00000419481.2:n.664+335_664+337delinsACT
ENST00000700182.1:c.706+335_706+337delinsACT	ENSP00000514849.1:n.706+335_706+337delinsACT
ENST00000700183.1:c.*1130_*1132delinsACT	ENSP00000514850.1:n.*1130_*1132delinsACT
ENST00000357654.9:c.1122_1124delinsACT MANE Select	ENSP00000350283.3:p.Thr374=
ENST00000471181.7:c.1122_1124delinsACT	ENSP00000418960.2:p.Thr374=
ENST00000652672.1:c.981_983delinsACT	ENSP00000498906.1:p.Thr327=
ENST00000352993.7:c.670+1437_670+1439delinsACT	ENSP00000312236.5:n.670+1437_670+1439delinsACT
ENST00000354071.7:c.1122_1124delinsACT	ENSP00000326002.7:p.Thr374=
ENST00000357654.7:c.1122_1124delinsACT	ENSP00000350283.3:p.Thr374=
ENST00000412061.3:c.473_475delinsACT
ENST00000461221.5:c.*905_*907delinsACT	ENSP00000418548.1:n.*905_*907delinsACT
ENST00000468300.5:c.787+335_787+337delinsACT	ENSP00000417148.1:n.787+335_787+337delinsACT
ENST00000470026.5:c.1122_1124delinsACT	ENSP00000419274.1:p.Thr374=
ENST00000471181.6:c.1122_1124delinsACT	ENSP00000418960.2:p.Thr374=
ENST00000473961.5:c.719_721delinsACT
ENST00000477152.5:c.1044_1046delinsACT	ENSP00000419988.1:p.Thr348=
ENST00000478531.5:c.784+335_784+337delinsACT	ENSP00000420412.1:n.784+335_784+337delinsACT
ENST00000484087.5:c.409+335_409+337delinsACT	ENSP00000419481.1:n.409+335_409+337delinsACT
ENST00000487825.5:c.412+335_412+337delinsACT	ENSP00000418212.1:n.412+335_412+337delinsACT
ENST00000491747.6:c.787+335_787+337delinsACT	ENSP00000420705.2:n.787+335_787+337delinsACT
ENST00000492859.5:c.*1058_*1060delinsACT	ENSP00000420253.1:n.*1058_*1060delinsACT
ENST00000493795.5:c.981_983delinsACT	ENSP00000418775.1:p.Thr327=
ENST00000493919.5:c.646+335_646+337delinsACT	ENSP00000418819.1:n.646+335_646+337delinsACT
ENST00000494123.5:c.1122_1124delinsACT	ENSP00000419103.1:p.Thr374=
ENST00000497488.1:c.234_236delinsACT	ENSP00000418986.1:p.Thr78=
ENST00000586385.5:c.5-30458_5-30456delinsACT	ENSP00000465818.1:n.5-30458_5-30456delinsACT
ENST00000591534.5:c.-43-19888_-43-19886delinsACT	ENSP00000467329.1:n.-43-19888_-43-19886delinsACT
ENST00000591849.5:c.-99+30862_-99+30864delinsACT	ENSP00000465347.1:n.-99+30862_-99+30864delinsACT
ENST00000634433.1:c.999_1001delinsACT	ENSP00000489431.1:p.Thr333=
NM_007294.3:c.1122_1124delinsACT , LRG_292t1:c.1122_1124delinsACT	NP_009225.1:p.Thr374=
NM_007297.3:c.981_983delinsACT	NP_009228.2:p.Thr327=
NM_007298.3:c.787+335_787+337delinsACT	NP_009229.2:n.787+335_787+337delinsACT
NM_007299.3:c.787+335_787+337delinsACT	NP_009230.2:n.787+335_787+337delinsACT
NM_007300.3:c.1122_1124delinsACT	NP_009231.2:p.Thr374=
NR_027676.1:n.1258_1260delinsACT
NM_007294.4:c.1122_1124delinsACT MANE Select	NP_009225.1:p.Thr374=
NM_007297.4:c.981_983delinsACT	NP_009228.2:p.Thr327=
NM_007299.4:c.787+335_787+337delinsACT	NP_009230.2:n.787+335_787+337delinsACT
NM_007300.4:c.1122_1124delinsACT	NP_009231.2:p.Thr374=
NR_027676.2:n.1299_1301delinsACT