Canonical Allele Identifier: CA2260784933

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094442_43094443delinsAT , CM000679.2:g.43094442_43094443delinsAT	GRCh38
NC_000017.10:g.41246459_41246460delinsAT , CM000679.1:g.41246459_41246460delinsAT	GRCh37
NC_000017.9:g.38499985_38499986delinsAT	NCBI36
NG_005905.2:g.123541_123542delinsAT , LRG_292:g.123541_123542delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1152_1153delinsAT
ENST00000461574.2:c.1088_1089delinsAT	ENSP00000417241.2:p.Asn363=
ENST00000470026.6:c.1088_1089delinsAT	ENSP00000419274.2:p.Asn363=
ENST00000473961.6:c.962_963delinsAT	ENSP00000420201.2:p.Asn321=
ENST00000476777.6:c.1085_1086delinsAT	ENSP00000417554.2:p.Asn362=
ENST00000477152.6:c.1010_1011delinsAT	ENSP00000419988.2:p.Asn337=
ENST00000478531.6:c.784+301_784+302delinsAT	ENSP00000420412.2:n.784+301_784+302delinsAT
ENST00000489037.2:c.1010_1011delinsAT	ENSP00000420781.2:p.Asn337=
ENST00000493919.6:c.646+301_646+302delinsAT	ENSP00000418819.2:n.646+301_646+302delinsAT
ENST00000494123.6:c.1088_1089delinsAT	ENSP00000419103.2:p.Asn363=
ENST00000497488.2:c.200_201delinsAT	ENSP00000418986.2:p.Asn67=
ENST00000618469.2:c.1088_1089delinsAT	ENSP00000478114.2:p.Asn363=
ENST00000634433.2:c.965_966delinsAT	ENSP00000489431.2:p.Asn322=
ENST00000644379.2:c.1088_1089delinsAT	ENSP00000496570.2:p.Asn363=
ENST00000644555.2:c.646+301_646+302delinsAT	ENSP00000494614.2:n.646+301_646+302delinsAT
ENST00000652672.2:c.947_948delinsAT	ENSP00000498906.2:p.Asn316=
ENST00000484087.6:c.664+301_664+302delinsAT	ENSP00000419481.2:n.664+301_664+302delinsAT
ENST00000700182.1:c.706+301_706+302delinsAT	ENSP00000514849.1:n.706+301_706+302delinsAT
ENST00000700183.1:c.*1096_*1097delinsAT	ENSP00000514850.1:n.*1096_*1097delinsAT
ENST00000357654.9:c.1088_1089delinsAT MANE Select	ENSP00000350283.3:p.Asn363=
ENST00000471181.7:c.1088_1089delinsAT	ENSP00000418960.2:p.Asn363=
ENST00000652672.1:c.947_948delinsAT	ENSP00000498906.1:p.Asn316=
ENST00000352993.7:c.670+1403_670+1404delinsAT	ENSP00000312236.5:n.670+1403_670+1404delinsAT
ENST00000354071.7:c.1088_1089delinsAT	ENSP00000326002.7:p.Asn363=
ENST00000357654.7:c.1088_1089delinsAT	ENSP00000350283.3:p.Asn363=
ENST00000412061.3:c.439_440delinsAT
ENST00000461221.5:c.*871_*872delinsAT	ENSP00000418548.1:n.*871_*872delinsAT
ENST00000468300.5:c.787+301_787+302delinsAT	ENSP00000417148.1:n.787+301_787+302delinsAT
ENST00000470026.5:c.1088_1089delinsAT	ENSP00000419274.1:p.Asn363=
ENST00000471181.6:c.1088_1089delinsAT	ENSP00000418960.2:p.Asn363=
ENST00000473961.5:c.685_686delinsAT
ENST00000477152.5:c.1010_1011delinsAT	ENSP00000419988.1:p.Asn337=
ENST00000478531.5:c.784+301_784+302delinsAT	ENSP00000420412.1:n.784+301_784+302delinsAT
ENST00000484087.5:c.409+301_409+302delinsAT	ENSP00000419481.1:n.409+301_409+302delinsAT
ENST00000487825.5:c.412+301_412+302delinsAT	ENSP00000418212.1:n.412+301_412+302delinsAT
ENST00000491747.6:c.787+301_787+302delinsAT	ENSP00000420705.2:n.787+301_787+302delinsAT
ENST00000492859.5:c.*1024_*1025delinsAT	ENSP00000420253.1:n.*1024_*1025delinsAT
ENST00000493795.5:c.947_948delinsAT	ENSP00000418775.1:p.Asn316=
ENST00000493919.5:c.646+301_646+302delinsAT	ENSP00000418819.1:n.646+301_646+302delinsAT
ENST00000494123.5:c.1088_1089delinsAT	ENSP00000419103.1:p.Asn363=
ENST00000497488.1:c.200_201delinsAT	ENSP00000418986.1:p.Asn67=
ENST00000586385.5:c.5-30492_5-30491delinsAT	ENSP00000465818.1:n.5-30492_5-30491delinsAT
ENST00000591534.5:c.-43-19922_-43-19921delinsAT	ENSP00000467329.1:n.-43-19922_-43-19921delinsAT
ENST00000591849.5:c.-99+30828_-99+30829delinsAT	ENSP00000465347.1:n.-99+30828_-99+30829delinsAT
ENST00000634433.1:c.965_966delinsAT	ENSP00000489431.1:p.Asn322=
NM_007294.3:c.1088_1089delinsAT , LRG_292t1:c.1088_1089delinsAT	NP_009225.1:p.Asn363=
NM_007297.3:c.947_948delinsAT	NP_009228.2:p.Asn316=
NM_007298.3:c.787+301_787+302delinsAT	NP_009229.2:n.787+301_787+302delinsAT
NM_007299.3:c.787+301_787+302delinsAT	NP_009230.2:n.787+301_787+302delinsAT
NM_007300.3:c.1088_1089delinsAT	NP_009231.2:p.Asn363=
NR_027676.1:n.1224_1225delinsAT
NM_007294.4:c.1088_1089delinsAT MANE Select	NP_009225.1:p.Asn363=
NM_007297.4:c.947_948delinsAT	NP_009228.2:p.Asn316=
NM_007299.4:c.787+301_787+302delinsAT	NP_009230.2:n.787+301_787+302delinsAT
NM_007300.4:c.1088_1089delinsAT	NP_009231.2:p.Asn363=
NR_027676.2:n.1265_1266delinsAT