Canonical Allele Identifier: CA1357867269
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996709_36996711delinsGGT , CM000665.2:g.36996709_36996711delinsGGT GRCh38
NC_000003.11:g.37038200_37038202delinsGGT , CM000665.1:g.37038200_37038202delinsGGT GRCh37
NC_000003.10:g.37013204_37013206delinsGGT NCBI36
NG_007109.2:g.8360_8362delinsGGT , LRG_216:g.8360_8362delinsGGT
NG_008418.1:g.1594_1596delinsACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.207_207+2delinsGGT
ENST00000429117.6:c.-83_-83+2delinsGGT
ENST00000450420.6:c.207_207+2delinsGGT
ENST00000456676.7:c.207_207+2delinsGGT
ENST00000458009.6:c.207_207+2delinsGGT
ENST00000492474.6:c.-517_-517+2delinsGGT
ENST00000616768.6:c.207_207+2delinsGGT
ENST00000673673.2:c.207_207+2delinsGGT
ENST00000231790.8:c.207_207+2delinsGGT
ENST00000413212.2:c.-517_-517+2delinsGGT
ENST00000432299.6:c.*287_*287+2delinsGGT
ENST00000441265.6:c.-517_-517+2delinsGGT
ENST00000442249.6:n.222_222+2delinsGGT
ENST00000447829.6:c.-83_-83+2delinsGGT
ENST00000476172.6:n.1120-1261_1120-1259delinsGGT
ENST00000539477.6:c.-425_-425+2delinsGGT
ENST00000673673.1:c.160_160+2delinsGGT
ENST00000673686.1:n.197_197+2delinsGGT
ENST00000673713.1:n.238_238+2delinsGGT
ENST00000673715.1:c.207_207+2delinsGGT
ENST00000673897.1:c.116+3046_116+3048delinsGGT ENSP00000501109.1:n.116+3046_116+3048delinsGGT
ENST00000673899.1:c.207_207+2delinsGGT
ENST00000673947.1:c.*347_*347+2delinsGGT
ENST00000673972.1:c.*85_*85+2delinsGGT
ENST00000673990.1:n.192_192+2delinsGGT
ENST00000674019.1:c.-517_-517+2delinsGGT
ENST00000674107.1:n.149_149+2delinsGGT
ENST00000674111.1:c.207_207+2delinsGGT
ENST00000231790.6:c.207_207+2delinsGGT
ENST00000429117.5:c.-83_-83+2delinsGGT
ENST00000432299.5:c.*287_*287+2delinsGGT
ENST00000435176.5:c.-83_-83+2delinsGGT
ENST00000441265.5:c.-425_-425+2delinsGGT
ENST00000442249.5:c.116+3046_116+3048delinsGGT ENSP00000387511.1:n.116+3046_116+3048delinsGGT
ENST00000454028.5:c.*85_*85+2delinsGGT
ENST00000455445.6:c.-517_-517+2delinsGGT
ENST00000456676.6:c.182_182+2delinsGGT
ENST00000457004.5:c.*85_*85+2delinsGGT
ENST00000458205.6:c.-662_-662+2delinsGGT
ENST00000466900.5:n.134_134+2delinsGGT
ENST00000476172.5:n.329_329+2delinsGGT
ENST00000485889.1:n.211_211+2delinsGGT
ENST00000492474.5:n.230_230+2delinsGGT
ENST00000536378.5:c.-517+3046_-517+3048delinsGGT ENSP00000444286.2:n.-517+3046_-517+3048delinsGGT
ENST00000539477.5:c.-425_-425+2delinsGGT
NM_000249.3:c.207_207+2delinsGGT , LRG_216t1:c.207_207+2delinsGGT
NM_001167617.1:c.-83_-83+2delinsGGT
NM_001167618.1:c.-517_-517+2delinsGGT
NM_001167619.1:c.-425_-425+2delinsGGT
NM_001258271.1:c.207_207+2delinsGGT
NM_001258273.1:c.-517+3046_-517+3048delinsGGT NP_001245202.1:n.-517+3046_-517+3048delinsGGT
NM_001258274.1:c.-662_-662+2delinsGGT
XM_005265161.1:c.207_207+2delinsGGT
XM_005265163.1:c.-517_-517+2delinsGGT
XM_005265164.1:c.-517_-517+2delinsGGT
XM_005265166.1:c.-723_-723+2delinsGGT
XM_011533727.1:c.-620_-620+2delinsGGT
NM_001167617.2:c.-83_-83+2delinsGGT
NM_001167618.2:c.-517_-517+2delinsGGT
NM_001167619.2:c.-425_-425+2delinsGGT
NM_001258274.2:c.-662_-662+2delinsGGT
NM_001354615.1:c.-420_-420+2delinsGGT
NM_001354616.1:c.-425_-425+2delinsGGT
NM_001354617.1:c.-517_-517+2delinsGGT
NM_001354618.1:c.-517_-517+2delinsGGT
NM_001354619.1:c.-517_-517+2delinsGGT
NM_001354620.1:c.-83_-83+2delinsGGT
NM_001354621.1:c.-610_-610+2delinsGGT
NM_001354622.1:c.-723_-723+2delinsGGT
NM_001354623.1:c.-723+2819_-723+2821delinsGGT NP_001341552.1:n.-723+2819_-723+2821delinsGGT
NM_001354624.1:c.-620_-620+2delinsGGT
NM_001354625.1:c.-523_-523+2delinsGGT
NM_001354626.1:c.-620_-620+2delinsGGT
NM_001354627.1:c.-620_-620+2delinsGGT
NM_001354628.1:c.207_207+2delinsGGT
NM_001354629.1:c.207_207+2delinsGGT
NM_001354630.1:c.207_207+2delinsGGT
XM_005265161.2:c.207_207+2delinsGGT
XM_017006450.2:c.-610_-610+2delinsGGT
NM_000249.4:c.207_207+2delinsGGT
NM_001167617.3:c.-83_-83+2delinsGGT
NM_001167618.3:c.-517_-517+2delinsGGT
NM_001167619.3:c.-425_-425+2delinsGGT
NM_001258271.2:c.207_207+2delinsGGT
NM_001258273.2:c.-517+3046_-517+3048delinsGGT NP_001245202.1:n.-517+3046_-517+3048delinsGGT
NM_001258274.3:c.-662_-662+2delinsGGT
NM_001354615.2:c.-420_-420+2delinsGGT
NM_001354616.2:c.-425_-425+2delinsGGT
NM_001354617.2:c.-517_-517+2delinsGGT
NM_001354618.2:c.-517_-517+2delinsGGT
NM_001354619.2:c.-517_-517+2delinsGGT
NM_001354620.2:c.-83_-83+2delinsGGT
NM_001354621.2:c.-610_-610+2delinsGGT
NM_001354622.2:c.-723_-723+2delinsGGT
NM_001354623.2:c.-723+2819_-723+2821delinsGGT NP_001341552.1:n.-723+2819_-723+2821delinsGGT
NM_001354624.2:c.-620_-620+2delinsGGT
NM_001354625.2:c.-523_-523+2delinsGGT
NM_001354626.2:c.-620_-620+2delinsGGT
NM_001354627.2:c.-620_-620+2delinsGGT
NM_001354628.2:c.207_207+2delinsGGT
NM_001354629.2:c.207_207+2delinsGGT
NM_001354630.2:c.207_207+2delinsGGT