Canonical Allele Identifier: CA2260784829

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094326_43094327delinsTC , CM000679.2:g.43094326_43094327delinsTC	GRCh38
NC_000017.10:g.41246343_41246344delinsTC , CM000679.1:g.41246343_41246344delinsTC	GRCh37
NC_000017.9:g.38499869_38499870delinsTC	NCBI36
NG_005905.2:g.123657_123658delinsGA , LRG_292:g.123657_123658delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1268_1269delinsGA
ENST00000461574.2:c.1204_1205delinsGA	ENSP00000417241.2:p.Glu402=
ENST00000470026.6:c.1204_1205delinsGA	ENSP00000419274.2:p.Glu402=
ENST00000473961.6:c.1078_1079delinsGA	ENSP00000420201.2:p.Glu360=
ENST00000476777.6:c.1201_1202delinsGA	ENSP00000417554.2:p.Glu401=
ENST00000477152.6:c.1126_1127delinsGA	ENSP00000419988.2:p.Glu376=
ENST00000478531.6:c.784+417_784+418delinsGA	ENSP00000420412.2:n.784+417_784+418delinsGA
ENST00000489037.2:c.1126_1127delinsGA	ENSP00000420781.2:p.Glu376=
ENST00000493919.6:c.646+417_646+418delinsGA	ENSP00000418819.2:n.646+417_646+418delinsGA
ENST00000494123.6:c.1204_1205delinsGA	ENSP00000419103.2:p.Glu402=
ENST00000497488.2:c.316_317delinsGA	ENSP00000418986.2:p.Glu106=
ENST00000618469.2:c.1204_1205delinsGA	ENSP00000478114.2:p.Glu402=
ENST00000634433.2:c.1081_1082delinsGA	ENSP00000489431.2:p.Glu361=
ENST00000644379.2:c.1204_1205delinsGA	ENSP00000496570.2:p.Glu402=
ENST00000644555.2:c.646+417_646+418delinsGA	ENSP00000494614.2:n.646+417_646+418delinsGA
ENST00000652672.2:c.1063_1064delinsGA	ENSP00000498906.2:p.Glu355=
ENST00000484087.6:c.664+417_664+418delinsGA	ENSP00000419481.2:n.664+417_664+418delinsGA
ENST00000700182.1:c.706+417_706+418delinsGA	ENSP00000514849.1:n.706+417_706+418delinsGA
ENST00000700183.1:c.*1212_*1213delinsGA	ENSP00000514850.1:n.*1212_*1213delinsGA
ENST00000357654.9:c.1204_1205delinsGA MANE Select	ENSP00000350283.3:p.Glu402=
ENST00000471181.7:c.1204_1205delinsGA	ENSP00000418960.2:p.Glu402=
ENST00000652672.1:c.1063_1064delinsGA	ENSP00000498906.1:p.Glu355=
ENST00000352993.7:c.670+1519_670+1520delinsGA	ENSP00000312236.5:n.670+1519_670+1520delinsGA
ENST00000354071.7:c.1204_1205delinsGA	ENSP00000326002.7:p.Glu402=
ENST00000357654.7:c.1204_1205delinsGA	ENSP00000350283.3:p.Glu402=
ENST00000412061.3:c.555_556delinsGA
ENST00000461221.5:c.*987_*988delinsGA	ENSP00000418548.1:n.*987_*988delinsGA
ENST00000468300.5:c.787+417_787+418delinsGA	ENSP00000417148.1:n.787+417_787+418delinsGA
ENST00000470026.5:c.1204_1205delinsGA	ENSP00000419274.1:p.Glu402=
ENST00000471181.6:c.1204_1205delinsGA	ENSP00000418960.2:p.Glu402=
ENST00000473961.5:c.801_802delinsGA
ENST00000477152.5:c.1126_1127delinsGA	ENSP00000419988.1:p.Glu376=
ENST00000478531.5:c.784+417_784+418delinsGA	ENSP00000420412.1:n.784+417_784+418delinsGA
ENST00000484087.5:c.409+417_409+418delinsGA	ENSP00000419481.1:n.409+417_409+418delinsGA
ENST00000487825.5:c.412+417_412+418delinsGA	ENSP00000418212.1:n.412+417_412+418delinsGA
ENST00000491747.6:c.787+417_787+418delinsGA	ENSP00000420705.2:n.787+417_787+418delinsGA
ENST00000492859.5:c.*1140_*1141delinsGA	ENSP00000420253.1:n.*1140_*1141delinsGA
ENST00000493795.5:c.1063_1064delinsGA	ENSP00000418775.1:p.Glu355=
ENST00000493919.5:c.646+417_646+418delinsGA	ENSP00000418819.1:n.646+417_646+418delinsGA
ENST00000494123.5:c.1204_1205delinsGA	ENSP00000419103.1:p.Glu402=
ENST00000497488.1:c.316_317delinsGA	ENSP00000418986.1:p.Glu106=
ENST00000586385.5:c.5-30376_5-30375delinsGA	ENSP00000465818.1:n.5-30376_5-30375delinsGA
ENST00000591534.5:c.-43-19806_-43-19805delinsGA	ENSP00000467329.1:n.-43-19806_-43-19805delinsGA
ENST00000591849.5:c.-99+30944_-99+30945delinsGA	ENSP00000465347.1:n.-99+30944_-99+30945delinsGA
ENST00000634433.1:c.1081_1082delinsGA	ENSP00000489431.1:p.Glu361=
NM_007294.3:c.1204_1205delinsGA , LRG_292t1:c.1204_1205delinsGA	NP_009225.1:p.Glu402=
NM_007297.3:c.1063_1064delinsGA	NP_009228.2:p.Glu355=
NM_007298.3:c.787+417_787+418delinsGA	NP_009229.2:n.787+417_787+418delinsGA
NM_007299.3:c.787+417_787+418delinsGA	NP_009230.2:n.787+417_787+418delinsGA
NM_007300.3:c.1204_1205delinsGA	NP_009231.2:p.Glu402=
NR_027676.1:n.1340_1341delinsGA
NM_007294.4:c.1204_1205delinsGA MANE Select	NP_009225.1:p.Glu402=
NM_007297.4:c.1063_1064delinsGA	NP_009228.2:p.Glu355=
NM_007299.4:c.787+417_787+418delinsGA	NP_009230.2:n.787+417_787+418delinsGA
NM_007300.4:c.1204_1205delinsGA	NP_009231.2:p.Glu402=
NR_027676.2:n.1381_1382delinsGA