LDH info

Canonical Allele Identifier: CA16617903
Gene: MLH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 419811
ClinVar RCV Id: RCV000484821
dbSNP Id: rs1064794122

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37017547del , CM000665.2:g.37017547del GRCh38
NC_000003.11:g.37059038del , CM000665.1:g.37059038del GRCh37
NC_000003.10:g.37034042del NCBI36
NG_007109.2:g.29198del , LRG_216:g.29198del

Transcript Alleles

HGVS Amino-acid change
NM_000249.3:c.832del , LRG_216t1:c.832del NP_000240.1:p.Thr278GlnfsTer19
NM_001167617.1:c.538del VV NP_001161089.1:p.Thr180GlnfsTer19
NM_001167618.1:c.109del VV NP_001161090.1:p.Thr37GlnfsTer19
NM_001167619.1:c.109del VV NP_001161091.1:p.Thr37GlnfsTer19
NM_001258271.1:c.832del VV NP_001245200.1:p.Thr278GlnfsTer19
NM_001258273.1:c.109del VV NP_001245202.1:p.Thr37GlnfsTer19
NM_001258274.1:c.109del VV NP_001245203.1:p.Thr37GlnfsTer19
XM_005265161.1:c.678-2763del XP_005265218.1:p.=
XM_005265163.1:c.109del XP_005265220.1:p.Thr37GlnfsTer19
XM_005265164.1:c.109del XP_005265221.1:p.Thr37GlnfsTer19
XM_005265166.1:c.-139-2763del XP_005265223.1:p.=
XM_011533727.1:c.-37+3003del XP_011532029.1:p.=
NM_001167617.2:c.538del VV NP_001161089.1:p.Thr180GlnfsTer19
NM_001167618.2:c.109del VV NP_001161090.1:p.Thr37GlnfsTer19
NM_001167619.2:c.109del VV NP_001161091.1:p.Thr37GlnfsTer19
NM_001258274.2:c.109del VV NP_001245203.1:p.Thr37GlnfsTer19
NM_001354615.1:c.109del VV NP_001341544.1:p.Thr37GlnfsTer19
NM_001354616.1:c.109del VV NP_001341545.1:p.Thr37GlnfsTer19
NM_001354617.1:c.109del VV NP_001341546.1:p.Thr37GlnfsTer19
NM_001354618.1:c.109del VV NP_001341547.1:p.Thr37GlnfsTer19
NM_001354619.1:c.109del VV NP_001341548.1:p.Thr37GlnfsTer19
NM_001354620.1:c.538del VV NP_001341549.1:p.Thr180GlnfsTer19
NM_001354621.1:c.-139-2763del VV NP_001341550.1:p.=
NM_001354622.1:c.-139-2763del VV NP_001341551.1:p.=
NM_001354623.1:c.-139-2763del VV NP_001341552.1:p.=
NM_001354624.1:c.-37+3003del VV NP_001341553.1:p.=
NM_001354625.1:c.-37+3003del VV NP_001341554.1:p.=
NM_001354626.1:c.-37+3003del VV NP_001341555.1:p.=
NM_001354627.1:c.-37+3003del VV NP_001341556.1:p.=
NM_001354628.1:c.832del VV NP_001341557.1:p.Thr278GlnfsTer19
NM_001354629.1:c.733del VV NP_001341558.1:p.Thr245GlnfsTer19
NM_001354630.1:c.832del VV NP_001341559.1:p.Thr278GlnfsTer19
XM_005265161.2:c.678-2763del XP_005265218.1:p.=
XM_017006450.2:c.-139-2763del XP_016861939.1:p.=
NM_000249.4:c.832del VV MANE Preferred NP_000240.1:p.Thr278GlnfsTer19
ENST00000231790.6:c.832del ENSP00000231790.2:p.Thr278GlnfsTer19
ENST00000413212.1:n.113+3003del
ENST00000435176.5:c.538del ENSP00000402564.1:p.Thr180GlnfsTer19
ENST00000441265.5:c.109del ENSP00000398392.1:p.Thr37GlnfsTer19
ENST00000447829.5:n.172-2763del
ENST00000455445.6:c.109del ENSP00000398272.2:p.Thr37GlnfsTer19
ENST00000456676.6:n.807del
ENST00000458009.5:n.173del
ENST00000458205.6:c.109del ENSP00000402667.2:p.Thr37GlnfsTer19
ENST00000536378.5:c.109del ENSP00000444286.2:p.Thr37GlnfsTer19
ENST00000539477.5:c.109del ENSP00000443665.1:p.Thr37GlnfsTer19