LDH info

Canonical Allele Identifier: CA001605
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 37466
dbSNP Id: rs80357664

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093119_43093120del , CM000679.2:g.43093119_43093120del GRCh38
NC_000017.10:g.41245136_41245137del , CM000679.1:g.41245136_41245137del GRCh37
NC_000017.9:g.38498662_38498663del NCBI36
NG_005905.2:g.124864_124865del , LRG_292:g.124864_124865del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.2411_2412del , LRG_292t1:c.2411_2412del NP_009225.1:p.Gln804LeufsTer5
NM_007297.3:c.2270_2271del VV NP_009228.2:p.Gln757LeufsTer5
NM_007298.3:c.787+1624_787+1625del VV NP_009229.2:p.=
NM_007299.3:c.787+1624_787+1625del VV NP_009230.2:p.=
NM_007300.3:c.2411_2412del VV NP_009231.2:p.Gln804LeufsTer5
NR_027676.1:n.2547_2548del
ENST00000352993.7:c.671-2088_671-2087del ENSP00000312236.5:p.=
ENST00000354071.7:c.2411_2412del ENSP00000326002.7:p.Gln804LeufsTer5
ENST00000357654.7:c.2411_2412del ENSP00000350283.3:p.Gln804LeufsTer5
ENST00000461221.5:c.*2194_*2195del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+1624_787+1625del ENSP00000417148.1:p.=
ENST00000471181.6:c.2411_2412del ENSP00000418960.2:p.Gln804LeufsTer5
ENST00000478531.5:c.784+1624_784+1625del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+1624_409+1625del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+1624_412+1625del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+1624_787+1625del ENSP00000420705.2:p.=
ENST00000493795.5:c.2270_2271del ENSP00000418775.1:p.Gln757LeufsTer5
ENST00000493919.5:c.646+1624_646+1625del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-29169_5-29168del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-18599_-43-18598del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+32151_-99+32152del ENSP00000465347.1:p.=
ENST00000634433.1:c.2288_2289del ENSP00000489431.1:p.Gln763LeufsTer5