Canonical Allele Identifier: CA2260781937
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091461_43091463delinsTCT , CM000679.2:g.43091461_43091463delinsTCT GRCh38
NC_000017.10:g.41243478_41243480delinsTCT , CM000679.1:g.41243478_41243480delinsTCT GRCh37
NC_000017.9:g.38497004_38497006delinsTCT NCBI36
NG_005905.2:g.126521_126523delinsAGA , LRG_292:g.126521_126523delinsAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4132_4134delinsAGA
ENST00000461574.2:c.4068_4070delinsAGA ENSP00000417241.2:p.Gln1356=
ENST00000470026.6:c.4068_4070delinsAGA ENSP00000419274.2:p.Gln1356=
ENST00000473961.6:c.3942_3944delinsAGA ENSP00000420201.2:p.Gln1314=
ENST00000476777.6:c.4065_4067delinsAGA ENSP00000417554.2:p.Gln1355=
ENST00000477152.6:c.3990_3992delinsAGA ENSP00000419988.2:p.Gln1330=
ENST00000478531.6:c.785-431_785-429delinsAGA ENSP00000420412.2:n.785-431_785-429delinsAGA
ENST00000489037.2:c.3990_3992delinsAGA ENSP00000420781.2:p.Gln1330=
ENST00000493919.6:c.647-431_647-429delinsAGA ENSP00000418819.2:n.647-431_647-429delinsAGA
ENST00000494123.6:c.4068_4070delinsAGA ENSP00000419103.2:p.Gln1356=
ENST00000497488.2:c.3180_3182delinsAGA ENSP00000418986.2:p.Gln1060=
ENST00000618469.2:c.4068_4070delinsAGA ENSP00000478114.2:p.Gln1356=
ENST00000634433.2:c.3945_3947delinsAGA ENSP00000489431.2:p.Gln1315=
ENST00000644379.2:c.4068_4070delinsAGA ENSP00000496570.2:p.Gln1356=
ENST00000644555.2:c.647-431_647-429delinsAGA ENSP00000494614.2:n.647-431_647-429delinsAGA
ENST00000652672.2:c.3927_3929delinsAGA ENSP00000498906.2:p.Gln1309=
ENST00000484087.6:c.665-431_665-429delinsAGA ENSP00000419481.2:n.665-431_665-429delinsAGA
ENST00000700182.1:c.707-431_707-429delinsAGA ENSP00000514849.1:n.707-431_707-429delinsAGA
ENST00000357654.9:c.4068_4070delinsAGA MANE Select ENSP00000350283.3:p.Gln1356=
ENST00000471181.7:c.4068_4070delinsAGA ENSP00000418960.2:p.Gln1356=
ENST00000644379.1:c.389_391delinsAGA
ENST00000352993.7:c.671-431_671-429delinsAGA ENSP00000312236.5:n.671-431_671-429delinsAGA
ENST00000354071.7:c.4068_4070delinsAGA ENSP00000326002.7:p.Gln1356=
ENST00000357654.7:c.4068_4070delinsAGA ENSP00000350283.3:p.Gln1356=
ENST00000461221.5:c.*3851_*3853delinsAGA ENSP00000418548.1:n.*3851_*3853delinsAGA
ENST00000461574.1:c.362_364delinsAGA
ENST00000468300.5:c.788-431_788-429delinsAGA ENSP00000417148.1:n.788-431_788-429delinsAGA
ENST00000471181.6:c.4068_4070delinsAGA ENSP00000418960.2:p.Gln1356=
ENST00000478531.5:c.785-431_785-429delinsAGA ENSP00000420412.1:n.785-431_785-429delinsAGA
ENST00000484087.5:c.410-431_410-429delinsAGA ENSP00000419481.1:n.410-431_410-429delinsAGA
ENST00000487825.5:c.413-431_413-429delinsAGA ENSP00000418212.1:n.413-431_413-429delinsAGA
ENST00000491747.6:c.788-431_788-429delinsAGA ENSP00000420705.2:n.788-431_788-429delinsAGA
ENST00000493795.5:c.3927_3929delinsAGA ENSP00000418775.1:p.Gln1309=
ENST00000493919.5:c.647-431_647-429delinsAGA ENSP00000418819.1:n.647-431_647-429delinsAGA
ENST00000586385.5:c.5-27512_5-27510delinsAGA ENSP00000465818.1:n.5-27512_5-27510delinsAGA
ENST00000591534.5:c.-43-16942_-43-16940delinsAGA ENSP00000467329.1:n.-43-16942_-43-16940delinsAGA
ENST00000591849.5:c.-99+33808_-99+33810delinsAGA ENSP00000465347.1:n.-99+33808_-99+33810delinsAGA
NM_007294.3:c.4068_4070delinsAGA , LRG_292t1:c.4068_4070delinsAGA NP_009225.1:p.Gln1356=
NM_007297.3:c.3927_3929delinsAGA NP_009228.2:p.Gln1309=
NM_007298.3:c.788-431_788-429delinsAGA NP_009229.2:n.788-431_788-429delinsAGA
NM_007299.3:c.788-431_788-429delinsAGA NP_009230.2:n.788-431_788-429delinsAGA
NM_007300.3:c.4068_4070delinsAGA NP_009231.2:p.Gln1356=
NR_027676.1:n.4204_4206delinsAGA
NM_007294.4:c.4068_4070delinsAGA MANE Select NP_009225.1:p.Gln1356=
NM_007297.4:c.3927_3929delinsAGA NP_009228.2:p.Gln1309=
NM_007299.4:c.788-431_788-429delinsAGA NP_009230.2:n.788-431_788-429delinsAGA
NM_007300.4:c.4068_4070delinsAGA NP_009231.2:p.Gln1356=
NR_027676.2:n.4245_4247delinsAGA