LDH info

Canonical Allele Identifier: CA16042399
Gene: MSH6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372414
dbSNP Id: rs1057517764

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805634dup , CM000664.2:g.47805634dup GRCh38
NC_000002.11:g.48032773dup , CM000664.1:g.48032773dup GRCh37
NC_000002.10:g.47886277dup NCBI36
NG_007111.1:g.27488dup , LRG_219:g.27488dup
NG_008397.1:g.105047dup

Transcript Alleles

HGVS Amino-acid change
NM_000179.2:c.3573dup , LRG_219t1:c.3573dup NP_000170.1:p.Val1192CysfsTer2
NM_001281492.1:c.3183dup VV NP_001268421.1:p.Val1062CysfsTer2
NM_001281493.1:c.2667dup VV NP_001268422.1:p.Val890CysfsTer2
NM_001281494.1:c.2667dup VV NP_001268423.1:p.Val890CysfsTer2
XM_005264271.1:c.3276dup XP_005264328.1:p.Val1093CysfsTer2
XM_011532798.1:c.3390dup XP_011531100.1:p.Val1131CysfsTer2
XM_011532799.1:c.3276dup XP_011531101.1:p.Val1093CysfsTer2
XM_011532800.1:c.3276dup XP_011531102.1:p.Val1093CysfsTer2
XM_024452819.1:c.3573dup XP_024308587.1:p.Val1192CysfsTer2
XM_024452820.1:c.3390dup XP_024308588.1:p.Val1131CysfsTer2
XM_024452821.1:c.3276dup XP_024308589.1:p.Val1093CysfsTer2
XM_024452822.1:c.2667dup XP_024308590.1:p.Val890CysfsTer2
NM_000179.3:c.3573dup VV MANE Preferred NP_000170.1:p.Val1192CysfsTer2
ENST00000234420.9:c.3573dup ENSP00000234420.4:p.Val1192CysfsTer2
ENST00000405808.5:c.169+2566dup ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+2365dup ENSP00000402692.1:p.=
ENST00000445503.5:c.*2920dup ENSP00000405294.1:p.=
ENST00000538136.1:c.2667dup ENSP00000438580.1:p.Val890CysfsTer2
ENST00000540021.5:c.3183dup ENSP00000446475.1:p.Val1062CysfsTer2
ENST00000614496.4:c.2667dup ENSP00000477844.1:p.Val890CysfsTer2
ENST00000622629.4:c.477dup ENSP00000482078.1:p.Val160CysfsTer2