Canonical Allele Identifier: CA2260781926
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091451_43091452delinsGC , CM000679.2:g.43091451_43091452delinsGC GRCh38
NC_000017.10:g.41243468_41243469delinsGC , CM000679.1:g.41243468_41243469delinsGC GRCh37
NC_000017.9:g.38496994_38496995delinsGC NCBI36
NG_005905.2:g.126532_126533delinsGC , LRG_292:g.126532_126533delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4143_4144delinsGC
ENST00000461574.2:c.4079_4080delinsGC ENSP00000417241.2:p.Ser1360=
ENST00000470026.6:c.4079_4080delinsGC ENSP00000419274.2:p.Ser1360=
ENST00000473961.6:c.3953_3954delinsGC ENSP00000420201.2:p.Ser1318=
ENST00000476777.6:c.4076_4077delinsGC ENSP00000417554.2:p.Ser1359=
ENST00000477152.6:c.4001_4002delinsGC ENSP00000419988.2:p.Ser1334=
ENST00000478531.6:c.785-420_785-419delinsGC ENSP00000420412.2:n.785-420_785-419delinsGC
ENST00000489037.2:c.4001_4002delinsGC ENSP00000420781.2:p.Ser1334=
ENST00000493919.6:c.647-420_647-419delinsGC ENSP00000418819.2:n.647-420_647-419delinsGC
ENST00000494123.6:c.4079_4080delinsGC ENSP00000419103.2:p.Ser1360=
ENST00000497488.2:c.3191_3192delinsGC ENSP00000418986.2:p.Ser1064=
ENST00000618469.2:c.4079_4080delinsGC ENSP00000478114.2:p.Ser1360=
ENST00000634433.2:c.3956_3957delinsGC ENSP00000489431.2:p.Ser1319=
ENST00000644379.2:c.4079_4080delinsGC ENSP00000496570.2:p.Ser1360=
ENST00000644555.2:c.647-420_647-419delinsGC ENSP00000494614.2:n.647-420_647-419delinsGC
ENST00000652672.2:c.3938_3939delinsGC ENSP00000498906.2:p.Ser1313=
ENST00000484087.6:c.665-420_665-419delinsGC ENSP00000419481.2:n.665-420_665-419delinsGC
ENST00000700182.1:c.707-420_707-419delinsGC ENSP00000514849.1:n.707-420_707-419delinsGC
ENST00000357654.9:c.4079_4080delinsGC MANE Select ENSP00000350283.3:p.Ser1360=
ENST00000471181.7:c.4079_4080delinsGC ENSP00000418960.2:p.Ser1360=
ENST00000644379.1:c.400_401delinsGC
ENST00000352993.7:c.671-420_671-419delinsGC ENSP00000312236.5:n.671-420_671-419delinsGC
ENST00000354071.7:c.4079_4080delinsGC ENSP00000326002.7:p.Ser1360=
ENST00000357654.7:c.4079_4080delinsGC ENSP00000350283.3:p.Ser1360=
ENST00000461221.5:c.*3862_*3863delinsGC ENSP00000418548.1:n.*3862_*3863delinsGC
ENST00000461574.1:c.373_374delinsGC
ENST00000468300.5:c.788-420_788-419delinsGC ENSP00000417148.1:n.788-420_788-419delinsGC
ENST00000471181.6:c.4079_4080delinsGC ENSP00000418960.2:p.Ser1360=
ENST00000478531.5:c.785-420_785-419delinsGC ENSP00000420412.1:n.785-420_785-419delinsGC
ENST00000484087.5:c.410-420_410-419delinsGC ENSP00000419481.1:n.410-420_410-419delinsGC
ENST00000487825.5:c.413-420_413-419delinsGC ENSP00000418212.1:n.413-420_413-419delinsGC
ENST00000491747.6:c.788-420_788-419delinsGC ENSP00000420705.2:n.788-420_788-419delinsGC
ENST00000493795.5:c.3938_3939delinsGC ENSP00000418775.1:p.Ser1313=
ENST00000493919.5:c.647-420_647-419delinsGC ENSP00000418819.1:n.647-420_647-419delinsGC
ENST00000586385.5:c.5-27501_5-27500delinsGC ENSP00000465818.1:n.5-27501_5-27500delinsGC
ENST00000591534.5:c.-43-16931_-43-16930delinsGC ENSP00000467329.1:n.-43-16931_-43-16930delinsGC
ENST00000591849.5:c.-99+33819_-99+33820delinsGC ENSP00000465347.1:n.-99+33819_-99+33820delinsGC
NM_007294.3:c.4079_4080delinsGC , LRG_292t1:c.4079_4080delinsGC NP_009225.1:p.Ser1360=
NM_007297.3:c.3938_3939delinsGC NP_009228.2:p.Ser1313=
NM_007298.3:c.788-420_788-419delinsGC NP_009229.2:n.788-420_788-419delinsGC
NM_007299.3:c.788-420_788-419delinsGC NP_009230.2:n.788-420_788-419delinsGC
NM_007300.3:c.4079_4080delinsGC NP_009231.2:p.Ser1360=
NR_027676.1:n.4215_4216delinsGC
NM_007294.4:c.4079_4080delinsGC MANE Select NP_009225.1:p.Ser1360=
NM_007297.4:c.3938_3939delinsGC NP_009228.2:p.Ser1313=
NM_007299.4:c.788-420_788-419delinsGC NP_009230.2:n.788-420_788-419delinsGC
NM_007300.4:c.4079_4080delinsGC NP_009231.2:p.Ser1360=
NR_027676.2:n.4256_4257delinsGC