Canonical Allele Identifier: CA1357866851
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs2081162585
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996635_36996636insAATA , CM000665.2:g.36996635_36996636insAATA GRCh38
NC_000003.11:g.37038126_37038127insAATA , CM000665.1:g.37038126_37038127insAATA GRCh37
NC_000003.10:g.37013130_37013131insAATA NCBI36
NG_007109.2:g.8286_8287insAATA , LRG_216:g.8286_8287insAATA
NG_008418.1:g.1670_1671insATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.133_134insAATA ENSP00000416476.2:p.Thr45LysfsTer9
ENST00000429117.6:c.-157_-156insAATA ENSP00000407019.2:n.-157_-156insAATA
ENST00000450420.6:c.133_134insAATA ENSP00000393006.2:p.Thr45LysfsTer9
ENST00000456676.7:c.133_134insAATA ENSP00000416687.3:p.Thr45LysfsTer9
ENST00000458009.6:c.133_134insAATA ENSP00000411066.2:p.Thr45LysfsTer9
ENST00000492474.6:c.-591_-590insAATA ENSP00000518393.1:n.-591_-590insAATA
ENST00000616768.6:c.133_134insAATA ENSP00000480669.3:p.Thr45LysfsTer9
ENST00000673673.2:c.133_134insAATA ENSP00000500979.2:p.Thr45LysfsTer9
ENST00000231790.8:c.133_134insAATA MANE Select ENSP00000231790.3:p.Thr45LysfsTer9
ENST00000413212.2:c.-591_-590insAATA ENSP00000400844.2:n.-591_-590insAATA
ENST00000432299.6:c.*213_*214insAATA ENSP00000416783.1:n.*213_*214insAATA
ENST00000441265.6:c.-591_-590insAATA ENSP00000398392.2:n.-591_-590insAATA
ENST00000442249.6:n.148_149insAATA
ENST00000447829.6:c.-157_-156insAATA ENSP00000399329.2:n.-157_-156insAATA
ENST00000476172.6:n.1120-1335_1120-1334insAATA
ENST00000539477.6:c.-499_-498insAATA ENSP00000443665.1:n.-499_-498insAATA
ENST00000673673.1:c.86_87insAATA
ENST00000673686.1:n.123_124insAATA
ENST00000673713.1:n.164_165insAATA
ENST00000673715.1:c.133_134insAATA ENSP00000501301.1:p.Thr45LysfsTer9
ENST00000673897.1:c.116+2972_116+2973insAATA ENSP00000501109.1:n.116+2972_116+2973insAATA
ENST00000673899.1:c.133_134insAATA ENSP00000501030.1:p.Thr45LysfsTer9
ENST00000673947.1:c.*273_*274insAATA ENSP00000501304.1:n.*273_*274insAATA
ENST00000673972.1:c.*11_*12insAATA ENSP00000501281.1:n.*11_*12insAATA
ENST00000673990.1:n.118_119insAATA
ENST00000674019.1:c.-591_-590insAATA ENSP00000501081.1:n.-591_-590insAATA
ENST00000674107.1:n.75_76insAATA
ENST00000674111.1:c.133_134insAATA ENSP00000501162.1:p.Thr45LysfsTer9
ENST00000231790.6:c.133_134insAATA ENSP00000231790.2:p.Thr45LysfsTer9
ENST00000429117.5:c.-157_-156insAATA ENSP00000407019.1:n.-157_-156insAATA
ENST00000432299.5:c.*213_*214insAATA ENSP00000416783.1:n.*213_*214insAATA
ENST00000435176.5:c.-157_-156insAATA ENSP00000402564.1:n.-157_-156insAATA
ENST00000441265.5:c.-499_-498insAATA ENSP00000398392.1:n.-499_-498insAATA
ENST00000442249.5:c.116+2972_116+2973insAATA ENSP00000387511.1:n.116+2972_116+2973insAATA
ENST00000454028.5:c.*11_*12insAATA ENSP00000392649.1:n.*11_*12insAATA
ENST00000455445.6:c.-591_-590insAATA ENSP00000398272.2:n.-591_-590insAATA
ENST00000456676.6:c.108_109insAATA
ENST00000457004.5:c.*11_*12insAATA ENSP00000407773.1:n.*11_*12insAATA
ENST00000458205.6:c.-736_-735insAATA ENSP00000402667.2:n.-736_-735insAATA
ENST00000466900.5:n.60_61insAATA
ENST00000476172.5:n.255_256insAATA
ENST00000485889.1:n.137_138insAATA
ENST00000492474.5:n.156_157insAATA
ENST00000536378.5:c.-517+2972_-517+2973insAATA ENSP00000444286.2:n.-517+2972_-517+2973insAATA
ENST00000539477.5:c.-499_-498insAATA ENSP00000443665.1:n.-499_-498insAATA
NM_000249.3:c.133_134insAATA , LRG_216t1:c.133_134insAATA NP_000240.1:p.Thr45LysfsTer9
NM_001167617.1:c.-157_-156insAATA NP_001161089.1:n.-157_-156insAATA
NM_001167618.1:c.-591_-590insAATA NP_001161090.1:n.-591_-590insAATA
NM_001167619.1:c.-499_-498insAATA NP_001161091.1:n.-499_-498insAATA
NM_001258271.1:c.133_134insAATA NP_001245200.1:p.Thr45LysfsTer9
NM_001258273.1:c.-517+2972_-517+2973insAATA NP_001245202.1:n.-517+2972_-517+2973insAATA
NM_001258274.1:c.-736_-735insAATA NP_001245203.1:n.-736_-735insAATA
XM_005265161.1:c.133_134insAATA XP_005265218.1:p.Thr45LysfsTer9
XM_005265163.1:c.-591_-590insAATA XP_005265220.1:n.-591_-590insAATA
XM_005265164.1:c.-591_-590insAATA XP_005265221.1:n.-591_-590insAATA
XM_005265166.1:c.-797_-796insAATA XP_005265223.1:n.-797_-796insAATA
XM_011533727.1:c.-694_-693insAATA XP_011532029.1:n.-694_-693insAATA
NM_001167617.2:c.-157_-156insAATA NP_001161089.1:n.-157_-156insAATA
NM_001167618.2:c.-591_-590insAATA NP_001161090.1:n.-591_-590insAATA
NM_001167619.2:c.-499_-498insAATA NP_001161091.1:n.-499_-498insAATA
NM_001258274.2:c.-736_-735insAATA NP_001245203.1:n.-736_-735insAATA
NM_001354615.1:c.-494_-493insAATA NP_001341544.1:n.-494_-493insAATA
NM_001354616.1:c.-499_-498insAATA NP_001341545.1:n.-499_-498insAATA
NM_001354617.1:c.-591_-590insAATA NP_001341546.1:n.-591_-590insAATA
NM_001354618.1:c.-591_-590insAATA NP_001341547.1:n.-591_-590insAATA
NM_001354619.1:c.-591_-590insAATA NP_001341548.1:n.-591_-590insAATA
NM_001354620.1:c.-157_-156insAATA NP_001341549.1:n.-157_-156insAATA
NM_001354621.1:c.-684_-683insAATA NP_001341550.1:n.-684_-683insAATA
NM_001354622.1:c.-797_-796insAATA NP_001341551.1:n.-797_-796insAATA
NM_001354623.1:c.-723+2745_-723+2746insAATA NP_001341552.1:n.-723+2745_-723+2746insAATA
NM_001354624.1:c.-694_-693insAATA NP_001341553.1:n.-694_-693insAATA
NM_001354625.1:c.-597_-596insAATA NP_001341554.1:n.-597_-596insAATA
NM_001354626.1:c.-694_-693insAATA NP_001341555.1:n.-694_-693insAATA
NM_001354627.1:c.-694_-693insAATA NP_001341556.1:n.-694_-693insAATA
NM_001354628.1:c.133_134insAATA NP_001341557.1:p.Thr45LysfsTer9
NM_001354629.1:c.133_134insAATA NP_001341558.1:p.Thr45LysfsTer9
NM_001354630.1:c.133_134insAATA NP_001341559.1:p.Thr45LysfsTer9
XM_005265161.2:c.133_134insAATA XP_005265218.1:p.Thr45LysfsTer9
XM_017006450.2:c.-684_-683insAATA XP_016861939.1:n.-684_-683insAATA
NM_000249.4:c.133_134insAATA MANE Select NP_000240.1:p.Thr45LysfsTer9
NM_001167617.3:c.-157_-156insAATA NP_001161089.1:n.-157_-156insAATA
NM_001167618.3:c.-591_-590insAATA NP_001161090.1:n.-591_-590insAATA
NM_001167619.3:c.-499_-498insAATA NP_001161091.1:n.-499_-498insAATA
NM_001258271.2:c.133_134insAATA NP_001245200.1:p.Thr45LysfsTer9
NM_001258273.2:c.-517+2972_-517+2973insAATA NP_001245202.1:n.-517+2972_-517+2973insAATA
NM_001258274.3:c.-736_-735insAATA NP_001245203.1:n.-736_-735insAATA
NM_001354615.2:c.-494_-493insAATA NP_001341544.1:n.-494_-493insAATA
NM_001354616.2:c.-499_-498insAATA NP_001341545.1:n.-499_-498insAATA
NM_001354617.2:c.-591_-590insAATA NP_001341546.1:n.-591_-590insAATA
NM_001354618.2:c.-591_-590insAATA NP_001341547.1:n.-591_-590insAATA
NM_001354619.2:c.-591_-590insAATA NP_001341548.1:n.-591_-590insAATA
NM_001354620.2:c.-157_-156insAATA NP_001341549.1:n.-157_-156insAATA
NM_001354621.2:c.-684_-683insAATA NP_001341550.1:n.-684_-683insAATA
NM_001354622.2:c.-797_-796insAATA NP_001341551.1:n.-797_-796insAATA
NM_001354623.2:c.-723+2745_-723+2746insAATA NP_001341552.1:n.-723+2745_-723+2746insAATA
NM_001354624.2:c.-694_-693insAATA NP_001341553.1:n.-694_-693insAATA
NM_001354625.2:c.-597_-596insAATA NP_001341554.1:n.-597_-596insAATA
NM_001354626.2:c.-694_-693insAATA NP_001341555.1:n.-694_-693insAATA
NM_001354627.2:c.-694_-693insAATA NP_001341556.1:n.-694_-693insAATA
NM_001354628.2:c.133_134insAATA NP_001341557.1:p.Thr45LysfsTer9
NM_001354629.2:c.133_134insAATA NP_001341558.1:p.Thr45LysfsTer9
NM_001354630.2:c.133_134insAATA NP_001341559.1:p.Thr45LysfsTer9
Search 100 bp 5'
Search 100 bp 3'