LDH info

Canonical Allele Identifier: CA014328
Gene: MSH6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 89463
dbSNP Id: rs267608114

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806356_47806357del , CM000664.2:g.47806356_47806357del GRCh38
NC_000002.11:g.48033495_48033496del , CM000664.1:g.48033495_48033496del GRCh37
NC_000002.10:g.47886999_47887000del NCBI36
NG_007111.1:g.28210_28211del , LRG_219:g.28210_28211del
NG_008397.1:g.104321_104322del

Transcript Alleles

HGVS Amino-acid change
NM_000179.2:c.3799_3800del , LRG_219t1:c.3799_3800del NP_000170.1:p.Met1267GlyfsTer7
NM_001281492.1:c.3409_3410del VV NP_001268421.1:p.Met1137GlyfsTer7
NM_001281493.1:c.2893_2894del VV NP_001268422.1:p.Met965GlyfsTer7
NM_001281494.1:c.2893_2894del VV NP_001268423.1:p.Met965GlyfsTer7
XM_005264271.1:c.3502_3503del XP_005264328.1:p.Met1168GlyfsTer7
XM_011532798.1:c.3616_3617del XP_011531100.1:p.Met1206GlyfsTer7
XM_011532799.1:c.3502_3503del XP_011531101.1:p.Met1168GlyfsTer7
XM_011532800.1:c.3502_3503del XP_011531102.1:p.Met1168GlyfsTer7
XM_024452819.1:c.3799_3800del XP_024308587.1:p.Met1267GlyfsTer14
XM_024452820.1:c.3616_3617del XP_024308588.1:p.Met1206GlyfsTer14
XM_024452821.1:c.3502_3503del XP_024308589.1:p.Met1168GlyfsTer14
XM_024452822.1:c.2893_2894del XP_024308590.1:p.Met965GlyfsTer14
ENST00000234420.9:c.3799_3800del ENSP00000234420.4:p.Met1267GlyfsTer7
ENST00000405808.5:c.169+1840_169+1841del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+1639_*124+1640del ENSP00000402692.1:p.=
ENST00000445503.5:c.*3146_*3147del ENSP00000405294.1:p.=
ENST00000538136.1:c.2893_2894del ENSP00000438580.1:p.Met965GlyfsTer7
ENST00000540021.5:c.3409_3410del ENSP00000446475.1:p.Met1137GlyfsTer7
ENST00000614496.4:c.2893_2894del ENSP00000477844.1:p.Met965GlyfsTer7
ENST00000622629.4:c.700_701del ENSP00000482078.1:p.Met234GlyfsTer7