Canonical Allele Identifier: CA2260772852
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071028_43071029delinsTC , CM000679.2:g.43071028_43071029delinsTC GRCh38
NC_000017.10:g.41223045_41223046delinsTC , CM000679.1:g.41223045_41223046delinsTC GRCh37
NC_000017.9:g.38476571_38476572delinsTC NCBI36
NG_005905.2:g.146955_146956delinsGA , LRG_292:g.146955_146956delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4882_4883delinsGA ENSP00000417241.2:p.Glu1628=
ENST00000470026.6:c.4885_4886delinsGA ENSP00000419274.2:p.Glu1629=
ENST00000473961.6:c.4759_4760delinsGA ENSP00000420201.2:p.Glu1587=
ENST00000476777.6:c.4879_4880delinsGA ENSP00000417554.2:p.Glu1627=
ENST00000477152.6:c.4807_4808delinsGA ENSP00000419988.2:p.Glu1603=
ENST00000478531.6:c.1573_1574delinsGA ENSP00000420412.2:p.Glu525=
ENST00000489037.2:c.4807_4808delinsGA ENSP00000420781.2:p.Glu1603=
ENST00000493919.6:c.1435_1436delinsGA ENSP00000418819.2:p.Glu479=
ENST00000494123.6:c.4885_4886delinsGA ENSP00000419103.2:p.Glu1629=
ENST00000497488.2:c.3997_3998delinsGA ENSP00000418986.2:p.Glu1333=
ENST00000618469.2:c.4885_4886delinsGA ENSP00000478114.2:p.Glu1629=
ENST00000634433.2:c.4762_4763delinsGA ENSP00000489431.2:p.Glu1588=
ENST00000644379.2:c.4951_4952delinsGA ENSP00000496570.2:p.Glu1651=
ENST00000644555.2:c.1435_1436delinsGA ENSP00000494614.2:p.Glu479=
ENST00000652672.2:c.4744_4745delinsGA ENSP00000498906.2:p.Glu1582=
ENST00000484087.6:c.1447_1448delinsGA ENSP00000419481.2:p.Glu483=
ENST00000700182.1:c.1492_1493delinsGA ENSP00000514849.1:p.Glu498=
ENST00000357654.9:c.4885_4886delinsGA MANE Select ENSP00000350283.3:p.Glu1629=
ENST00000471181.7:c.4948_4949delinsGA ENSP00000418960.2:p.Glu1650=
ENST00000644379.1:c.1272_1273delinsGA
ENST00000352993.7:c.1459_1460delinsGA ENSP00000312236.5:p.Glu487=
ENST00000357654.7:c.4885_4886delinsGA ENSP00000350283.3:p.Glu1629=
ENST00000461221.5:c.*4668_*4669delinsGA ENSP00000418548.1:n.*4668_*4669delinsGA
ENST00000468300.5:c.1573_1574delinsGA ENSP00000417148.1:p.Glu525=
ENST00000471181.6:c.4948_4949delinsGA ENSP00000418960.2:p.Glu1650=
ENST00000472490.1:n.38_39delinsGA
ENST00000478531.5:c.1573_1574delinsGA ENSP00000420412.1:p.Glu525=
ENST00000484087.5:c.1198_1199delinsGA ENSP00000419481.1:p.Glu400=
ENST00000491747.6:c.1573_1574delinsGA ENSP00000420705.2:p.Glu525=
ENST00000493795.5:c.4744_4745delinsGA ENSP00000418775.1:p.Glu1582=
ENST00000493919.5:c.1435_1436delinsGA ENSP00000418819.1:p.Glu479=
ENST00000586385.5:c.5-7078_5-7077delinsGA ENSP00000465818.1:n.5-7078_5-7077delinsGA
ENST00000591534.5:c.358_359delinsGA ENSP00000467329.1:p.Glu120=
ENST00000591849.5:c.-98-20839_-98-20838delinsGA ENSP00000465347.1:n.-98-20839_-98-20838delinsGA
NM_007294.3:c.4885_4886delinsGA , LRG_292t1:c.4885_4886delinsGA NP_009225.1:p.Glu1629=
NM_007297.3:c.4744_4745delinsGA NP_009228.2:p.Glu1582=
NM_007298.3:c.1573_1574delinsGA NP_009229.2:p.Glu525=
NM_007299.3:c.1573_1574delinsGA NP_009230.2:p.Glu525=
NM_007300.3:c.4948_4949delinsGA NP_009231.2:p.Glu1650=
NR_027676.1:n.5021_5022delinsGA
NM_007294.4:c.4885_4886delinsGA MANE Select NP_009225.1:p.Glu1629=
NM_007297.4:c.4744_4745delinsGA NP_009228.2:p.Glu1582=
NM_007299.4:c.1573_1574delinsGA NP_009230.2:p.Glu525=
NM_007300.4:c.4948_4949delinsGA NP_009231.2:p.Glu1650=
NR_027676.2:n.5062_5063delinsGA