Canonical Allele Identifier: CA2260784930

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094439_43094440delinsAG , CM000679.2:g.43094439_43094440delinsAG	GRCh38
NC_000017.10:g.41246456_41246457delinsAG , CM000679.1:g.41246456_41246457delinsAG	GRCh37
NC_000017.9:g.38499982_38499983delinsAG	NCBI36
NG_005905.2:g.123544_123545delinsCT , LRG_292:g.123544_123545delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1155_1156delinsCT
ENST00000461574.2:c.1091_1092delinsCT	ENSP00000417241.2:p.Pro364=
ENST00000470026.6:c.1091_1092delinsCT	ENSP00000419274.2:p.Pro364=
ENST00000473961.6:c.965_966delinsCT	ENSP00000420201.2:p.Pro322=
ENST00000476777.6:c.1088_1089delinsCT	ENSP00000417554.2:p.Pro363=
ENST00000477152.6:c.1013_1014delinsCT	ENSP00000419988.2:p.Pro338=
ENST00000478531.6:c.784+304_784+305delinsCT	ENSP00000420412.2:n.784+304_784+305delinsCT
ENST00000489037.2:c.1013_1014delinsCT	ENSP00000420781.2:p.Pro338=
ENST00000493919.6:c.646+304_646+305delinsCT	ENSP00000418819.2:n.646+304_646+305delinsCT
ENST00000494123.6:c.1091_1092delinsCT	ENSP00000419103.2:p.Pro364=
ENST00000497488.2:c.203_204delinsCT	ENSP00000418986.2:p.Pro68=
ENST00000618469.2:c.1091_1092delinsCT	ENSP00000478114.2:p.Pro364=
ENST00000634433.2:c.968_969delinsCT	ENSP00000489431.2:p.Pro323=
ENST00000644379.2:c.1091_1092delinsCT	ENSP00000496570.2:p.Pro364=
ENST00000644555.2:c.646+304_646+305delinsCT	ENSP00000494614.2:n.646+304_646+305delinsCT
ENST00000652672.2:c.950_951delinsCT	ENSP00000498906.2:p.Pro317=
ENST00000484087.6:c.664+304_664+305delinsCT	ENSP00000419481.2:n.664+304_664+305delinsCT
ENST00000700182.1:c.706+304_706+305delinsCT	ENSP00000514849.1:n.706+304_706+305delinsCT
ENST00000700183.1:c.*1099_*1100delinsCT	ENSP00000514850.1:n.*1099_*1100delinsCT
ENST00000357654.9:c.1091_1092delinsCT MANE Select	ENSP00000350283.3:p.Pro364=
ENST00000471181.7:c.1091_1092delinsCT	ENSP00000418960.2:p.Pro364=
ENST00000652672.1:c.950_951delinsCT	ENSP00000498906.1:p.Pro317=
ENST00000352993.7:c.670+1406_670+1407delinsCT	ENSP00000312236.5:n.670+1406_670+1407delinsCT
ENST00000354071.7:c.1091_1092delinsCT	ENSP00000326002.7:p.Pro364=
ENST00000357654.7:c.1091_1092delinsCT	ENSP00000350283.3:p.Pro364=
ENST00000412061.3:c.442_443delinsCT
ENST00000461221.5:c.*874_*875delinsCT	ENSP00000418548.1:n.*874_*875delinsCT
ENST00000468300.5:c.787+304_787+305delinsCT	ENSP00000417148.1:n.787+304_787+305delinsCT
ENST00000470026.5:c.1091_1092delinsCT	ENSP00000419274.1:p.Pro364=
ENST00000471181.6:c.1091_1092delinsCT	ENSP00000418960.2:p.Pro364=
ENST00000473961.5:c.688_689delinsCT
ENST00000477152.5:c.1013_1014delinsCT	ENSP00000419988.1:p.Pro338=
ENST00000478531.5:c.784+304_784+305delinsCT	ENSP00000420412.1:n.784+304_784+305delinsCT
ENST00000484087.5:c.409+304_409+305delinsCT	ENSP00000419481.1:n.409+304_409+305delinsCT
ENST00000487825.5:c.412+304_412+305delinsCT	ENSP00000418212.1:n.412+304_412+305delinsCT
ENST00000491747.6:c.787+304_787+305delinsCT	ENSP00000420705.2:n.787+304_787+305delinsCT
ENST00000492859.5:c.*1027_*1028delinsCT	ENSP00000420253.1:n.*1027_*1028delinsCT
ENST00000493795.5:c.950_951delinsCT	ENSP00000418775.1:p.Pro317=
ENST00000493919.5:c.646+304_646+305delinsCT	ENSP00000418819.1:n.646+304_646+305delinsCT
ENST00000494123.5:c.1091_1092delinsCT	ENSP00000419103.1:p.Pro364=
ENST00000497488.1:c.203_204delinsCT	ENSP00000418986.1:p.Pro68=
ENST00000586385.5:c.5-30489_5-30488delinsCT	ENSP00000465818.1:n.5-30489_5-30488delinsCT
ENST00000591534.5:c.-43-19919_-43-19918delinsCT	ENSP00000467329.1:n.-43-19919_-43-19918delinsCT
ENST00000591849.5:c.-99+30831_-99+30832delinsCT	ENSP00000465347.1:n.-99+30831_-99+30832delinsCT
ENST00000634433.1:c.968_969delinsCT	ENSP00000489431.1:p.Pro323=
NM_007294.3:c.1091_1092delinsCT , LRG_292t1:c.1091_1092delinsCT	NP_009225.1:p.Pro364=
NM_007297.3:c.950_951delinsCT	NP_009228.2:p.Pro317=
NM_007298.3:c.787+304_787+305delinsCT	NP_009229.2:n.787+304_787+305delinsCT
NM_007299.3:c.787+304_787+305delinsCT	NP_009230.2:n.787+304_787+305delinsCT
NM_007300.3:c.1091_1092delinsCT	NP_009231.2:p.Pro364=
NR_027676.1:n.1227_1228delinsCT
NM_007294.4:c.1091_1092delinsCT MANE Select	NP_009225.1:p.Pro364=
NM_007297.4:c.950_951delinsCT	NP_009228.2:p.Pro317=
NM_007299.4:c.787+304_787+305delinsCT	NP_009230.2:n.787+304_787+305delinsCT
NM_007300.4:c.1091_1092delinsCT	NP_009231.2:p.Pro364=
NR_027676.2:n.1268_1269delinsCT