LDH info

Canonical Allele Identifier: CA2090423
Gene: BARD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 230344
dbSNP Id: rs772486760

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781417_214781420dup , CM000664.2:g.214781417_214781420dup GRCh38
NC_000002.11:g.215646141_215646144dup , CM000664.1:g.215646141_215646144dup GRCh37
NC_000002.10:g.215354386_215354389dup NCBI36
NG_012047.2:g.33288_33291dup

Transcript Alleles

HGVS Amino-acid change
NM_000465.3:c.457_460dup VV NP_000456.2:p.Val154GlufsTer8
NM_001282543.1:c.400_403dup VV NP_001269472.1:p.Val135GlufsTer8
NM_001282545.1:c.215+15644_215+15647dup VV NP_001269474.1:p.=
NM_001282548.1:c.158+27995_158+27998dup VV NP_001269477.1:p.=
NM_001282549.1:c.364+10880_364+10883dup VV NP_001269478.1:p.=
NR_104212.1:n.450_453dup
NR_104215.1:n.393_396dup
NR_104216.1:n.506+10880_506+10883dup
XM_011511567.1:c.403_406dup XP_011509869.1:p.Val136GlufsTer8
XM_011511568.1:c.457_460dup XP_011509870.1:p.Val154GlufsTer8
XM_017004613.1:c.556_559dup XP_016860102.1:p.Val187GlufsTer8
XM_017004614.1:c.556_559dup XP_016860103.1:p.Val187GlufsTer8
XR_002959322.1:n.647_650dup
NM_000465.4:c.457_460dup VV MANE Preferred NP_000456.2:p.Val154GlufsTer8
ENST00000260947.8:c.457_460dup ENSP00000260947.4:p.Val154GlufsTer8
ENST00000421162.1:c.215+15644_215+15647dup ENSP00000392245.1:p.=
ENST00000455743.5:c.*77_*80dup ENSP00000412186.1:p.=
ENST00000471787.1:n.352_355dup
ENST00000613192.1:c.73+27995_73+27998dup ENSP00000483275.1:p.=
ENST00000613374.4:c.158+27995_158+27998dup ENSP00000484464.1:p.=
ENST00000613706.4:c.215+15644_215+15647dup ENSP00000484976.1:p.=
ENST00000617164.4:c.400_403dup ENSP00000480470.1:p.Val135GlufsTer8
ENST00000619009.4:c.364+10880_364+10883dup ENSP00000482293.1:p.=
ENST00000620057.4:c.364+10880_364+10883dup ENSP00000481988.1:p.=