Canonical Allele Identifier: CA2739265626
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2858159
ClinVar RCV Id: RCV003644636

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092344_43092345del , CM000679.2:g.43092344_43092345del GRCh38
NC_000017.10:g.41244361_41244362del , CM000679.1:g.41244361_41244362del GRCh37
NC_000017.9:g.38497887_38497888del NCBI36
NG_005905.2:g.125639_125640del , LRG_292:g.125639_125640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3250_3251del
ENST00000461574.2:c.3186_3187del ENSP00000417241.2:p.Ser1063GlnfsTer2
ENST00000470026.6:c.3186_3187del ENSP00000419274.2:p.Ser1063GlnfsTer2
ENST00000473961.6:c.3060_3061del ENSP00000420201.2:p.Ser1021GlnfsTer2
ENST00000476777.6:c.3183_3184del ENSP00000417554.2:p.Ser1062GlnfsTer2
ENST00000477152.6:c.3108_3109del ENSP00000419988.2:p.Ser1037GlnfsTer2
ENST00000478531.6:c.785-1313_785-1312del ENSP00000420412.2:n.785-1313_785-1312del
ENST00000489037.2:c.3108_3109del ENSP00000420781.2:p.Ser1037GlnfsTer2
ENST00000493919.6:c.647-1313_647-1312del ENSP00000418819.2:n.647-1313_647-1312del
ENST00000494123.6:c.3186_3187del ENSP00000419103.2:p.Ser1063GlnfsTer2
ENST00000497488.2:c.2298_2299del ENSP00000418986.2:p.Ser767GlnfsTer2
ENST00000618469.2:c.3186_3187del ENSP00000478114.2:p.Ser1063GlnfsTer2
ENST00000634433.2:c.3063_3064del ENSP00000489431.2:p.Ser1022GlnfsTer2
ENST00000644379.2:c.3186_3187del ENSP00000496570.2:p.Ser1063GlnfsTer2
ENST00000644555.2:c.647-1313_647-1312del ENSP00000494614.2:n.647-1313_647-1312del
ENST00000652672.2:c.3045_3046del ENSP00000498906.2:p.Ser1016GlnfsTer2
ENST00000484087.6:c.665-1313_665-1312del ENSP00000419481.2:n.665-1313_665-1312del
ENST00000700182.1:c.707-1313_707-1312del ENSP00000514849.1:n.707-1313_707-1312del
ENST00000357654.9:c.3186_3187del MANE Select ENSP00000350283.3:p.Ser1063GlnfsTer2
ENST00000471181.7:c.3186_3187del ENSP00000418960.2:p.Ser1063GlnfsTer2
ENST00000352993.7:c.671-1313_671-1312del ENSP00000312236.5:n.671-1313_671-1312del
ENST00000354071.7:c.3186_3187del ENSP00000326002.7:p.Ser1063GlnfsTer2
ENST00000357654.7:c.3186_3187del ENSP00000350283.3:p.Ser1063GlnfsTer2
ENST00000461221.5:c.*2969_*2970del ENSP00000418548.1:n.*2969_*2970del
ENST00000468300.5:c.788-1313_788-1312del ENSP00000417148.1:n.788-1313_788-1312del
ENST00000471181.6:c.3186_3187del ENSP00000418960.2:p.Ser1063GlnfsTer2
ENST00000478531.5:c.785-1313_785-1312del ENSP00000420412.1:n.785-1313_785-1312del
ENST00000484087.5:c.410-1313_410-1312del ENSP00000419481.1:n.410-1313_410-1312del
ENST00000487825.5:c.413-1313_413-1312del ENSP00000418212.1:n.413-1313_413-1312del
ENST00000491747.6:c.788-1313_788-1312del ENSP00000420705.2:n.788-1313_788-1312del
ENST00000493795.5:c.3045_3046del ENSP00000418775.1:p.Ser1016GlnfsTer2
ENST00000493919.5:c.647-1313_647-1312del ENSP00000418819.1:n.647-1313_647-1312del
ENST00000586385.5:c.5-28394_5-28393del ENSP00000465818.1:n.5-28394_5-28393del
ENST00000591534.5:c.-43-17824_-43-17823del ENSP00000467329.1:n.-43-17824_-43-17823del
ENST00000591849.5:c.-99+32926_-99+32927del ENSP00000465347.1:n.-99+32926_-99+32927del
NM_007294.3:c.3186_3187del , LRG_292t1:c.3186_3187del NP_009225.1:p.Ser1063GlnfsTer2
NM_007297.3:c.3045_3046del NP_009228.2:p.Ser1016GlnfsTer2
NM_007298.3:c.788-1313_788-1312del NP_009229.2:n.788-1313_788-1312del
NM_007299.3:c.788-1313_788-1312del NP_009230.2:n.788-1313_788-1312del
NM_007300.3:c.3186_3187del NP_009231.2:p.Ser1063GlnfsTer2
NR_027676.1:n.3322_3323del
NM_007294.4:c.3186_3187del MANE Select NP_009225.1:p.Ser1063GlnfsTer2
NM_007297.4:c.3045_3046del NP_009228.2:p.Ser1016GlnfsTer2
NM_007299.4:c.788-1313_788-1312del NP_009230.2:n.788-1313_788-1312del
NM_007300.4:c.3186_3187del NP_009231.2:p.Ser1063GlnfsTer2
NR_027676.2:n.3363_3364del