Canonical Allele Identifier: CA001665
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54589
dbSNP Id: rs397508974

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093015_43093016del , CM000679.2:g.43093015_43093016del GRCh38
NC_000017.10:g.41245032_41245033del , CM000679.1:g.41245032_41245033del GRCh37
NC_000017.9:g.38498558_38498559del NCBI36
NG_005905.2:g.124970_124971del , LRG_292:g.124970_124971del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2581_2582del
ENST00000461574.2:c.2517_2518del ENSP00000417241.2:p.His839GlnfsTer12
ENST00000470026.6:c.2517_2518del ENSP00000419274.2:p.His839GlnfsTer12
ENST00000473961.6:c.2391_2392del ENSP00000420201.2:p.His797GlnfsTer12
ENST00000476777.6:c.2514_2515del ENSP00000417554.2:p.His838GlnfsTer12
ENST00000477152.6:c.2439_2440del ENSP00000419988.2:p.His813GlnfsTer12
ENST00000478531.6:c.784+1730_784+1731del ENSP00000420412.2:n.784+1730_784+1731del
ENST00000489037.2:c.2439_2440del ENSP00000420781.2:p.His813GlnfsTer12
ENST00000493919.6:c.646+1730_646+1731del ENSP00000418819.2:n.646+1730_646+1731del
ENST00000494123.6:c.2517_2518del ENSP00000419103.2:p.His839GlnfsTer12
ENST00000497488.2:c.1629_1630del ENSP00000418986.2:p.His543GlnfsTer12
ENST00000618469.2:c.2517_2518del ENSP00000478114.2:p.His839GlnfsTer12
ENST00000634433.2:c.2394_2395del ENSP00000489431.2:p.His798GlnfsTer12
ENST00000644379.2:c.2517_2518del ENSP00000496570.2:p.His839GlnfsTer12
ENST00000644555.2:c.646+1730_646+1731del ENSP00000494614.2:n.646+1730_646+1731del
ENST00000652672.2:c.2376_2377del ENSP00000498906.2:p.His792GlnfsTer12
ENST00000484087.6:c.664+1730_664+1731del ENSP00000419481.2:n.664+1730_664+1731del
ENST00000700182.1:c.706+1730_706+1731del ENSP00000514849.1:n.706+1730_706+1731del
ENST00000357654.9:c.2517_2518del MANE Select ENSP00000350283.3:p.His839GlnfsTer12
ENST00000471181.7:c.2517_2518del ENSP00000418960.2:p.His839GlnfsTer12
ENST00000352993.7:c.671-1982_671-1981del ENSP00000312236.5:n.671-1982_671-1981del
ENST00000354071.7:c.2517_2518del ENSP00000326002.7:p.His839GlnfsTer12
ENST00000357654.7:c.2517_2518del ENSP00000350283.3:p.His839GlnfsTer12
ENST00000461221.5:c.*2300_*2301del ENSP00000418548.1:n.*2300_*2301del
ENST00000468300.5:c.787+1730_787+1731del ENSP00000417148.1:n.787+1730_787+1731del
ENST00000471181.6:c.2517_2518del ENSP00000418960.2:p.His839GlnfsTer12
ENST00000478531.5:c.784+1730_784+1731del ENSP00000420412.1:n.784+1730_784+1731del
ENST00000484087.5:c.409+1730_409+1731del ENSP00000419481.1:n.409+1730_409+1731del
ENST00000487825.5:c.412+1730_412+1731del ENSP00000418212.1:n.412+1730_412+1731del
ENST00000491747.6:c.787+1730_787+1731del ENSP00000420705.2:n.787+1730_787+1731del
ENST00000493795.5:c.2376_2377del ENSP00000418775.1:p.His792GlnfsTer12
ENST00000493919.5:c.646+1730_646+1731del ENSP00000418819.1:n.646+1730_646+1731del
ENST00000586385.5:c.5-29063_5-29062del ENSP00000465818.1:n.5-29063_5-29062del
ENST00000591534.5:c.-43-18493_-43-18492del ENSP00000467329.1:n.-43-18493_-43-18492de...
ENST00000591849.5:c.-99+32257_-99+32258del ENSP00000465347.1:n.-99+32257_-99+32258de...
ENST00000634433.1:c.2394_2395del ENSP00000489431.1:p.His798=
NM_007294.3:c.2517_2518del , LRG_292t1:c.2517_2518del NP_009225.1:p.His839GlnfsTer12
NM_007297.3:c.2376_2377del NP_009228.2:p.His792GlnfsTer12
NM_007298.3:c.787+1730_787+1731del NP_009229.2:n.787+1730_787+1731del
NM_007299.3:c.787+1730_787+1731del NP_009230.2:n.787+1730_787+1731del
NM_007300.3:c.2517_2518del NP_009231.2:p.His839GlnfsTer12
NR_027676.1:n.2653_2654del
NM_007294.4:c.2517_2518del MANE Select NP_009225.1:p.His839GlnfsTer12
NM_007297.4:c.2376_2377del NP_009228.2:p.His792GlnfsTer12
NM_007299.4:c.787+1730_787+1731del NP_009230.2:n.787+1730_787+1731del
NM_007300.4:c.2517_2518del NP_009231.2:p.His839GlnfsTer12
NR_027676.2:n.2694_2695del