Canonical Allele Identifier: CA1357866856
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs2081163192

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996638_36996639insACAATA , CM000665.2:g.36996638_36996639insACAATA GRCh38
NC_000003.11:g.37038129_37038130insACAATA , CM000665.1:g.37038129_37038130insACAATA GRCh37
NC_000003.10:g.37013133_37013134insACAATA NCBI36
NG_007109.2:g.8289_8290insACAATA , LRG_216:g.8289_8290insACAATA
NG_008418.1:g.1667_1668insATTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.136_137insACAATA ENSP00000416476.2:p.Thr45_Ser46insAsnAsn
ENST00000429117.6:c.-154_-153insACAATA ENSP00000407019.2:n.-154_-153insACAATA
ENST00000450420.6:c.136_137insACAATA ENSP00000393006.2:p.Thr45_Ser46insAsnAsn
ENST00000456676.7:c.136_137insACAATA ENSP00000416687.3:p.Thr45_Ser46insAsnAsn
ENST00000458009.6:c.136_137insACAATA ENSP00000411066.2:p.Thr45_Ser46insAsnAsn
ENST00000492474.6:c.-588_-587insACAATA ENSP00000518393.1:n.-588_-587insACAATA
ENST00000616768.6:c.136_137insACAATA ENSP00000480669.3:p.Thr45_Ser46insAsnAsn
ENST00000673673.2:c.136_137insACAATA ENSP00000500979.2:p.Thr45_Ser46insAsnAsn
ENST00000231790.8:c.136_137insACAATA MANE Select ENSP00000231790.3:p.Thr45_Ser46insAsnAsn
ENST00000413212.2:c.-588_-587insACAATA ENSP00000400844.2:n.-588_-587insACAATA
ENST00000432299.6:c.*216_*217insACAATA ENSP00000416783.1:n.*216_*217insACAATA
ENST00000441265.6:c.-588_-587insACAATA ENSP00000398392.2:n.-588_-587insACAATA
ENST00000442249.6:n.151_152insACAATA
ENST00000447829.6:c.-154_-153insACAATA ENSP00000399329.2:n.-154_-153insACAATA
ENST00000476172.6:n.1120-1332_1120-1331insACAATA
ENST00000539477.6:c.-496_-495insACAATA ENSP00000443665.1:n.-496_-495insACAATA
ENST00000673673.1:c.89_90insACAATA
ENST00000673686.1:n.126_127insACAATA
ENST00000673713.1:n.167_168insACAATA
ENST00000673715.1:c.136_137insACAATA ENSP00000501301.1:p.Thr45_Ser46insAsnAsn
ENST00000673897.1:c.116+2975_116+2976insACAATA ENSP00000501109.1:n.116+2975_116+2976insACAATA
ENST00000673899.1:c.136_137insACAATA ENSP00000501030.1:p.Thr45_Ser46insAsnAsn
ENST00000673947.1:c.*276_*277insACAATA ENSP00000501304.1:n.*276_*277insACAATA
ENST00000673972.1:c.*14_*15insACAATA ENSP00000501281.1:n.*14_*15insACAATA
ENST00000673990.1:n.121_122insACAATA
ENST00000674019.1:c.-588_-587insACAATA ENSP00000501081.1:n.-588_-587insACAATA
ENST00000674107.1:n.78_79insACAATA
ENST00000674111.1:c.136_137insACAATA ENSP00000501162.1:p.Thr45_Ser46insAsnAsn
ENST00000231790.6:c.136_137insACAATA ENSP00000231790.2:p.Thr45_Ser46insAsnAsn
ENST00000429117.5:c.-154_-153insACAATA ENSP00000407019.1:n.-154_-153insACAATA
ENST00000432299.5:c.*216_*217insACAATA ENSP00000416783.1:n.*216_*217insACAATA
ENST00000435176.5:c.-154_-153insACAATA ENSP00000402564.1:n.-154_-153insACAATA
ENST00000441265.5:c.-496_-495insACAATA ENSP00000398392.1:n.-496_-495insACAATA
ENST00000442249.5:c.116+2975_116+2976insACAATA ENSP00000387511.1:n.116+2975_116+2976insACAATA
ENST00000454028.5:c.*14_*15insACAATA ENSP00000392649.1:n.*14_*15insACAATA
ENST00000455445.6:c.-588_-587insACAATA ENSP00000398272.2:n.-588_-587insACAATA
ENST00000456676.6:c.111_112insACAATA
ENST00000457004.5:c.*14_*15insACAATA ENSP00000407773.1:n.*14_*15insACAATA
ENST00000458205.6:c.-733_-732insACAATA ENSP00000402667.2:n.-733_-732insACAATA
ENST00000466900.5:n.63_64insACAATA
ENST00000476172.5:n.258_259insACAATA
ENST00000485889.1:n.140_141insACAATA
ENST00000492474.5:n.159_160insACAATA
ENST00000536378.5:c.-517+2975_-517+2976insACAATA ENSP00000444286.2:n.-517+2975_-517+2976insACAATA
ENST00000539477.5:c.-496_-495insACAATA ENSP00000443665.1:n.-496_-495insACAATA
NM_000249.3:c.136_137insACAATA , LRG_216t1:c.136_137insACAATA NP_000240.1:p.Thr45_Ser46insAsnAsn
NM_001167617.1:c.-154_-153insACAATA NP_001161089.1:n.-154_-153insACAATA
NM_001167618.1:c.-588_-587insACAATA NP_001161090.1:n.-588_-587insACAATA
NM_001167619.1:c.-496_-495insACAATA NP_001161091.1:n.-496_-495insACAATA
NM_001258271.1:c.136_137insACAATA NP_001245200.1:p.Thr45_Ser46insAsnAsn
NM_001258273.1:c.-517+2975_-517+2976insACAATA NP_001245202.1:n.-517+2975_-517+2976insACAATA
NM_001258274.1:c.-733_-732insACAATA NP_001245203.1:n.-733_-732insACAATA
XM_005265161.1:c.136_137insACAATA XP_005265218.1:p.Thr45_Ser46insAsnAsn
XM_005265163.1:c.-588_-587insACAATA XP_005265220.1:n.-588_-587insACAATA
XM_005265164.1:c.-588_-587insACAATA XP_005265221.1:n.-588_-587insACAATA
XM_005265166.1:c.-794_-793insACAATA XP_005265223.1:n.-794_-793insACAATA
XM_011533727.1:c.-691_-690insACAATA XP_011532029.1:n.-691_-690insACAATA
NM_001167617.2:c.-154_-153insACAATA NP_001161089.1:n.-154_-153insACAATA
NM_001167618.2:c.-588_-587insACAATA NP_001161090.1:n.-588_-587insACAATA
NM_001167619.2:c.-496_-495insACAATA NP_001161091.1:n.-496_-495insACAATA
NM_001258274.2:c.-733_-732insACAATA NP_001245203.1:n.-733_-732insACAATA
NM_001354615.1:c.-491_-490insACAATA NP_001341544.1:n.-491_-490insACAATA
NM_001354616.1:c.-496_-495insACAATA NP_001341545.1:n.-496_-495insACAATA
NM_001354617.1:c.-588_-587insACAATA NP_001341546.1:n.-588_-587insACAATA
NM_001354618.1:c.-588_-587insACAATA NP_001341547.1:n.-588_-587insACAATA
NM_001354619.1:c.-588_-587insACAATA NP_001341548.1:n.-588_-587insACAATA
NM_001354620.1:c.-154_-153insACAATA NP_001341549.1:n.-154_-153insACAATA
NM_001354621.1:c.-681_-680insACAATA NP_001341550.1:n.-681_-680insACAATA
NM_001354622.1:c.-794_-793insACAATA NP_001341551.1:n.-794_-793insACAATA
NM_001354623.1:c.-723+2748_-723+2749insACAATA NP_001341552.1:n.-723+2748_-723+2749insACAATA
NM_001354624.1:c.-691_-690insACAATA NP_001341553.1:n.-691_-690insACAATA
NM_001354625.1:c.-594_-593insACAATA NP_001341554.1:n.-594_-593insACAATA
NM_001354626.1:c.-691_-690insACAATA NP_001341555.1:n.-691_-690insACAATA
NM_001354627.1:c.-691_-690insACAATA NP_001341556.1:n.-691_-690insACAATA
NM_001354628.1:c.136_137insACAATA NP_001341557.1:p.Thr45_Ser46insAsnAsn
NM_001354629.1:c.136_137insACAATA NP_001341558.1:p.Thr45_Ser46insAsnAsn
NM_001354630.1:c.136_137insACAATA NP_001341559.1:p.Thr45_Ser46insAsnAsn
XM_005265161.2:c.136_137insACAATA XP_005265218.1:p.Thr45_Ser46insAsnAsn
XM_017006450.2:c.-681_-680insACAATA XP_016861939.1:n.-681_-680insACAATA
NM_000249.4:c.136_137insACAATA MANE Select NP_000240.1:p.Thr45_Ser46insAsnAsn
NM_001167617.3:c.-154_-153insACAATA NP_001161089.1:n.-154_-153insACAATA
NM_001167618.3:c.-588_-587insACAATA NP_001161090.1:n.-588_-587insACAATA
NM_001167619.3:c.-496_-495insACAATA NP_001161091.1:n.-496_-495insACAATA
NM_001258271.2:c.136_137insACAATA NP_001245200.1:p.Thr45_Ser46insAsnAsn
NM_001258273.2:c.-517+2975_-517+2976insACAATA NP_001245202.1:n.-517+2975_-517+2976insACAATA
NM_001258274.3:c.-733_-732insACAATA NP_001245203.1:n.-733_-732insACAATA
NM_001354615.2:c.-491_-490insACAATA NP_001341544.1:n.-491_-490insACAATA
NM_001354616.2:c.-496_-495insACAATA NP_001341545.1:n.-496_-495insACAATA
NM_001354617.2:c.-588_-587insACAATA NP_001341546.1:n.-588_-587insACAATA
NM_001354618.2:c.-588_-587insACAATA NP_001341547.1:n.-588_-587insACAATA
NM_001354619.2:c.-588_-587insACAATA NP_001341548.1:n.-588_-587insACAATA
NM_001354620.2:c.-154_-153insACAATA NP_001341549.1:n.-154_-153insACAATA
NM_001354621.2:c.-681_-680insACAATA NP_001341550.1:n.-681_-680insACAATA
NM_001354622.2:c.-794_-793insACAATA NP_001341551.1:n.-794_-793insACAATA
NM_001354623.2:c.-723+2748_-723+2749insACAATA NP_001341552.1:n.-723+2748_-723+2749insACAATA
NM_001354624.2:c.-691_-690insACAATA NP_001341553.1:n.-691_-690insACAATA
NM_001354625.2:c.-594_-593insACAATA NP_001341554.1:n.-594_-593insACAATA
NM_001354626.2:c.-691_-690insACAATA NP_001341555.1:n.-691_-690insACAATA
NM_001354627.2:c.-691_-690insACAATA NP_001341556.1:n.-691_-690insACAATA
NM_001354628.2:c.136_137insACAATA NP_001341557.1:p.Thr45_Ser46insAsnAsn
NM_001354629.2:c.136_137insACAATA NP_001341558.1:p.Thr45_Ser46insAsnAsn
NM_001354630.2:c.136_137insACAATA NP_001341559.1:p.Thr45_Ser46insAsnAsn