Canonical Allele Identifier: CA2580094051
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1737576
ClinVar RCV Id: RCV002323066

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091446_43091456dup , CM000679.2:g.43091446_43091456dup GRCh38
NC_000017.10:g.41243463_41243473dup , CM000679.1:g.41243463_41243473dup GRCh37
NC_000017.9:g.38496989_38496999dup NCBI36
NG_005905.2:g.126528_126538dup , LRG_292:g.126528_126538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4139_4149dup
ENST00000461574.2:c.4075_4085dup ENSP00000417241.2:p.Ser1363LysfsTer7
ENST00000470026.6:c.4075_4085dup ENSP00000419274.2:p.Ser1363LysfsTer7
ENST00000473961.6:c.3949_3959dup ENSP00000420201.2:p.Ser1321LysfsTer7
ENST00000476777.6:c.4072_4082dup ENSP00000417554.2:p.Ser1362LysfsTer7
ENST00000477152.6:c.3997_4007dup ENSP00000419988.2:p.Ser1337LysfsTer7
ENST00000478531.6:c.785-424_785-414dup ENSP00000420412.2:n.785-424_785-414dup
ENST00000489037.2:c.3997_4007dup ENSP00000420781.2:p.Ser1337LysfsTer7
ENST00000493919.6:c.647-424_647-414dup ENSP00000418819.2:n.647-424_647-414dup
ENST00000494123.6:c.4075_4085dup ENSP00000419103.2:p.Ser1363LysfsTer7
ENST00000497488.2:c.3187_3197dup ENSP00000418986.2:p.Ser1067LysfsTer7
ENST00000618469.2:c.4075_4085dup ENSP00000478114.2:p.Ser1363LysfsTer7
ENST00000634433.2:c.3952_3962dup ENSP00000489431.2:p.Ser1322LysfsTer7
ENST00000644379.2:c.4075_4085dup ENSP00000496570.2:p.Ser1363LysfsTer7
ENST00000644555.2:c.647-424_647-414dup ENSP00000494614.2:n.647-424_647-414dup
ENST00000652672.2:c.3934_3944dup ENSP00000498906.2:p.Ser1316LysfsTer7
ENST00000484087.6:c.665-424_665-414dup ENSP00000419481.2:n.665-424_665-414dup
ENST00000700182.1:c.707-424_707-414dup ENSP00000514849.1:n.707-424_707-414dup
ENST00000357654.9:c.4075_4085dup MANE Select ENSP00000350283.3:p.Ser1363LysfsTer7
ENST00000471181.7:c.4075_4085dup ENSP00000418960.2:p.Ser1363LysfsTer7
ENST00000644379.1:c.396_406dup
ENST00000352993.7:c.671-424_671-414dup ENSP00000312236.5:n.671-424_671-414dup
ENST00000354071.7:c.4075_4085dup ENSP00000326002.7:p.Ser1363LysfsTer7
ENST00000357654.7:c.4075_4085dup ENSP00000350283.3:p.Ser1363LysfsTer7
ENST00000461221.5:c.*3858_*3868dup ENSP00000418548.1:n.*3858_*3868dup
ENST00000461574.1:c.369_379dup
ENST00000468300.5:c.788-424_788-414dup ENSP00000417148.1:n.788-424_788-414dup
ENST00000471181.6:c.4075_4085dup ENSP00000418960.2:p.Ser1363LysfsTer7
ENST00000478531.5:c.785-424_785-414dup ENSP00000420412.1:n.785-424_785-414dup
ENST00000484087.5:c.410-424_410-414dup ENSP00000419481.1:n.410-424_410-414dup
ENST00000487825.5:c.413-424_413-414dup ENSP00000418212.1:n.413-424_413-414dup
ENST00000491747.6:c.788-424_788-414dup ENSP00000420705.2:n.788-424_788-414dup
ENST00000493795.5:c.3934_3944dup ENSP00000418775.1:p.Ser1316LysfsTer7
ENST00000493919.5:c.647-424_647-414dup ENSP00000418819.1:n.647-424_647-414dup
ENST00000586385.5:c.5-27505_5-27495dup ENSP00000465818.1:n.5-27505_5-27495dup
ENST00000591534.5:c.-43-16935_-43-16925dup ENSP00000467329.1:n.-43-16935_-43-16925dup
ENST00000591849.5:c.-99+33815_-99+33825dup ENSP00000465347.1:n.-99+33815_-99+33825dup
NM_007294.3:c.4075_4085dup , LRG_292t1:c.4075_4085dup NP_009225.1:p.Ser1363LysfsTer7
NM_007297.3:c.3934_3944dup NP_009228.2:p.Ser1316LysfsTer7
NM_007298.3:c.788-424_788-414dup NP_009229.2:n.788-424_788-414dup
NM_007299.3:c.788-424_788-414dup NP_009230.2:n.788-424_788-414dup
NM_007300.3:c.4075_4085dup NP_009231.2:p.Ser1363LysfsTer7
NR_027676.1:n.4211_4221dup
NM_007294.4:c.4075_4085dup MANE Select NP_009225.1:p.Ser1363LysfsTer7
NM_007297.4:c.3934_3944dup NP_009228.2:p.Ser1316LysfsTer7
NM_007299.4:c.788-424_788-414dup NP_009230.2:n.788-424_788-414dup
NM_007300.4:c.4075_4085dup NP_009231.2:p.Ser1363LysfsTer7
NR_027676.2:n.4252_4262dup