Canonical Allele Identifier: CA658655495
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996710del , CM000665.2:g.36996710del GRCh38
NC_000003.11:g.37038201del , CM000665.1:g.37038201del GRCh37
NC_000003.10:g.37013205del NCBI36
NG_007109.2:g.8361del , LRG_216:g.8361del
NG_008418.1:g.1597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.207+1del
ENST00000429117.6:c.-83+1del
ENST00000450420.6:c.207+1del
ENST00000456676.7:c.207+1del
ENST00000458009.6:c.207+1del
ENST00000492474.6:c.-517+1del
ENST00000616768.6:c.207+1del
ENST00000673673.2:c.207+1del
ENST00000231790.8:c.207+1del
ENST00000413212.2:c.-517+1del
ENST00000432299.6:c.*287+1del
ENST00000441265.6:c.-517+1del
ENST00000442249.6:n.222+1del
ENST00000447829.6:c.-83+1del
ENST00000476172.6:n.1120-1260del
ENST00000539477.6:c.-425+1del
ENST00000673673.1:c.160+1del
ENST00000673686.1:n.197+1del
ENST00000673713.1:n.238+1del
ENST00000673715.1:c.207+1del
ENST00000673897.1:c.116+3047del ENSP00000501109.1:n.116+3047del
ENST00000673899.1:c.207+1del
ENST00000673947.1:c.*347+1del
ENST00000673972.1:c.*85+1del
ENST00000673990.1:n.192+1del
ENST00000674019.1:c.-517+1del
ENST00000674107.1:n.149+1del
ENST00000674111.1:c.207+1del
ENST00000231790.6:c.207+1del
ENST00000429117.5:c.-83+1del
ENST00000432299.5:c.*287+1del
ENST00000435176.5:c.-83+1del
ENST00000441265.5:c.-425+1del
ENST00000442249.5:c.116+3047del ENSP00000387511.1:n.116+3047del
ENST00000454028.5:c.*85+1del
ENST00000455445.6:c.-517+1del
ENST00000456676.6:c.182+1del
ENST00000457004.5:c.*85+1del
ENST00000458205.6:c.-662+1del
ENST00000466900.5:n.134+1del
ENST00000476172.5:n.329+1del
ENST00000485889.1:n.211+1del
ENST00000492474.5:n.230+1del
ENST00000536378.5:c.-517+3047del ENSP00000444286.2:n.-517+3047del
ENST00000539477.5:c.-425+1del
NM_000249.3:c.207+1del , LRG_216t1:c.207+1del
NM_001167617.1:c.-83+1del
NM_001167618.1:c.-517+1del
NM_001167619.1:c.-425+1del
NM_001258271.1:c.207+1del
NM_001258273.1:c.-517+3047del NP_001245202.1:n.-517+3047del
NM_001258274.1:c.-662+1del
XM_005265161.1:c.207+1del
XM_005265163.1:c.-517+1del
XM_005265164.1:c.-517+1del
XM_005265166.1:c.-723+1del
XM_011533727.1:c.-620+1del
NM_001167617.2:c.-83+1del
NM_001167618.2:c.-517+1del
NM_001167619.2:c.-425+1del
NM_001258274.2:c.-662+1del
NM_001354615.1:c.-420+1del
NM_001354616.1:c.-425+1del
NM_001354617.1:c.-517+1del
NM_001354618.1:c.-517+1del
NM_001354619.1:c.-517+1del
NM_001354620.1:c.-83+1del
NM_001354621.1:c.-610+1del
NM_001354622.1:c.-723+1del
NM_001354623.1:c.-723+2820del NP_001341552.1:n.-723+2820del
NM_001354624.1:c.-620+1del
NM_001354625.1:c.-523+1del
NM_001354626.1:c.-620+1del
NM_001354627.1:c.-620+1del
NM_001354628.1:c.207+1del
NM_001354629.1:c.207+1del
NM_001354630.1:c.207+1del
XM_005265161.2:c.207+1del
XM_017006450.2:c.-610+1del
NM_000249.4:c.207+1del
NM_001167617.3:c.-83+1del
NM_001167618.3:c.-517+1del
NM_001167619.3:c.-425+1del
NM_001258271.2:c.207+1del
NM_001258273.2:c.-517+3047del NP_001245202.1:n.-517+3047del
NM_001258274.3:c.-662+1del
NM_001354615.2:c.-420+1del
NM_001354616.2:c.-425+1del
NM_001354617.2:c.-517+1del
NM_001354618.2:c.-517+1del
NM_001354619.2:c.-517+1del
NM_001354620.2:c.-83+1del
NM_001354621.2:c.-610+1del
NM_001354622.2:c.-723+1del
NM_001354623.2:c.-723+2820del NP_001341552.1:n.-723+2820del
NM_001354624.2:c.-620+1del
NM_001354625.2:c.-523+1del
NM_001354626.2:c.-620+1del
NM_001354627.2:c.-620+1del
NM_001354628.2:c.207+1del
NM_001354629.2:c.207+1del
NM_001354630.2:c.207+1del