Canonical Allele Identifier: CA2260784962

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094476_43094477delinsTC , CM000679.2:g.43094476_43094477delinsTC	GRCh38
NC_000017.10:g.41246493_41246494delinsTC , CM000679.1:g.41246493_41246494delinsTC	GRCh37
NC_000017.9:g.38500019_38500020delinsTC	NCBI36
NG_005905.2:g.123507_123508delinsGA , LRG_292:g.123507_123508delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1118_1119delinsGA
ENST00000461574.2:c.1054_1055delinsGA	ENSP00000417241.2:p.Glu352=
ENST00000470026.6:c.1054_1055delinsGA	ENSP00000419274.2:p.Glu352=
ENST00000473961.6:c.928_929delinsGA	ENSP00000420201.2:p.Glu310=
ENST00000476777.6:c.1051_1052delinsGA	ENSP00000417554.2:p.Glu351=
ENST00000477152.6:c.976_977delinsGA	ENSP00000419988.2:p.Glu326=
ENST00000478531.6:c.784+267_784+268delinsGA	ENSP00000420412.2:n.784+267_784+268delinsGA
ENST00000489037.2:c.976_977delinsGA	ENSP00000420781.2:p.Glu326=
ENST00000493919.6:c.646+267_646+268delinsGA	ENSP00000418819.2:n.646+267_646+268delinsGA
ENST00000494123.6:c.1054_1055delinsGA	ENSP00000419103.2:p.Glu352=
ENST00000497488.2:c.166_167delinsGA	ENSP00000418986.2:p.Glu56=
ENST00000618469.2:c.1054_1055delinsGA	ENSP00000478114.2:p.Glu352=
ENST00000634433.2:c.931_932delinsGA	ENSP00000489431.2:p.Glu311=
ENST00000644379.2:c.1054_1055delinsGA	ENSP00000496570.2:p.Glu352=
ENST00000644555.2:c.646+267_646+268delinsGA	ENSP00000494614.2:n.646+267_646+268delinsGA
ENST00000652672.2:c.913_914delinsGA	ENSP00000498906.2:p.Glu305=
ENST00000484087.6:c.664+267_664+268delinsGA	ENSP00000419481.2:n.664+267_664+268delinsGA
ENST00000700182.1:c.706+267_706+268delinsGA	ENSP00000514849.1:n.706+267_706+268delinsGA
ENST00000700183.1:c.*1062_*1063delinsGA	ENSP00000514850.1:n.*1062_*1063delinsGA
ENST00000357654.9:c.1054_1055delinsGA MANE Select	ENSP00000350283.3:p.Glu352=
ENST00000471181.7:c.1054_1055delinsGA	ENSP00000418960.2:p.Glu352=
ENST00000652672.1:c.913_914delinsGA	ENSP00000498906.1:p.Glu305=
ENST00000352993.7:c.670+1369_670+1370delinsGA	ENSP00000312236.5:n.670+1369_670+1370delinsGA
ENST00000354071.7:c.1054_1055delinsGA	ENSP00000326002.7:p.Glu352=
ENST00000357654.7:c.1054_1055delinsGA	ENSP00000350283.3:p.Glu352=
ENST00000412061.3:c.405_406delinsGA
ENST00000461221.5:c.*837_*838delinsGA	ENSP00000418548.1:n.*837_*838delinsGA
ENST00000468300.5:c.787+267_787+268delinsGA	ENSP00000417148.1:n.787+267_787+268delinsGA
ENST00000470026.5:c.1054_1055delinsGA	ENSP00000419274.1:p.Glu352=
ENST00000471181.6:c.1054_1055delinsGA	ENSP00000418960.2:p.Glu352=
ENST00000473961.5:c.651_652delinsGA
ENST00000477152.5:c.976_977delinsGA	ENSP00000419988.1:p.Glu326=
ENST00000478531.5:c.784+267_784+268delinsGA	ENSP00000420412.1:n.784+267_784+268delinsGA
ENST00000484087.5:c.409+267_409+268delinsGA	ENSP00000419481.1:n.409+267_409+268delinsGA
ENST00000487825.5:c.412+267_412+268delinsGA	ENSP00000418212.1:n.412+267_412+268delinsGA
ENST00000491747.6:c.787+267_787+268delinsGA	ENSP00000420705.2:n.787+267_787+268delinsGA
ENST00000492859.5:c.*990_*991delinsGA	ENSP00000420253.1:n.*990_*991delinsGA
ENST00000493795.5:c.913_914delinsGA	ENSP00000418775.1:p.Glu305=
ENST00000493919.5:c.646+267_646+268delinsGA	ENSP00000418819.1:n.646+267_646+268delinsGA
ENST00000494123.5:c.1054_1055delinsGA	ENSP00000419103.1:p.Glu352=
ENST00000497488.1:c.166_167delinsGA	ENSP00000418986.1:p.Glu56=
ENST00000586385.5:c.5-30526_5-30525delinsGA	ENSP00000465818.1:n.5-30526_5-30525delinsGA
ENST00000591534.5:c.-43-19956_-43-19955delinsGA	ENSP00000467329.1:n.-43-19956_-43-19955delinsGA
ENST00000591849.5:c.-99+30794_-99+30795delinsGA	ENSP00000465347.1:n.-99+30794_-99+30795delinsGA
ENST00000634433.1:c.931_932delinsGA	ENSP00000489431.1:p.Glu311=
NM_007294.3:c.1054_1055delinsGA , LRG_292t1:c.1054_1055delinsGA	NP_009225.1:p.Glu352=
NM_007297.3:c.913_914delinsGA	NP_009228.2:p.Glu305=
NM_007298.3:c.787+267_787+268delinsGA	NP_009229.2:n.787+267_787+268delinsGA
NM_007299.3:c.787+267_787+268delinsGA	NP_009230.2:n.787+267_787+268delinsGA
NM_007300.3:c.1054_1055delinsGA	NP_009231.2:p.Glu352=
NR_027676.1:n.1190_1191delinsGA
NM_007294.4:c.1054_1055delinsGA MANE Select	NP_009225.1:p.Glu352=
NM_007297.4:c.913_914delinsGA	NP_009228.2:p.Glu305=
NM_007299.4:c.787+267_787+268delinsGA	NP_009230.2:n.787+267_787+268delinsGA
NM_007300.4:c.1054_1055delinsGA	NP_009231.2:p.Glu352=
NR_027676.2:n.1231_1232delinsGA