Canonical Allele Identifier: CA1357890163
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047564_37047566delinsCCA , CM000665.2:g.37047564_37047566delinsCCA GRCh38
NC_000003.11:g.37089055_37089057delinsCCA , CM000665.1:g.37089055_37089057delinsCCA GRCh37
NC_000003.10:g.37064059_37064061delinsCCA NCBI36
NG_007109.2:g.59215_59217delinsCCA , LRG_216:g.59215_59217delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2922_1668-2920delinsCCA ENSP00000416476.2:n.1668-2922_1668-2920delinsCCA
ENST00000429117.6:c.1483_1485delinsCCA ENSP00000407019.2:p.Pro495=
ENST00000450420.6:c.1559-2922_1559-2920delinsCCA ENSP00000393006.2:n.1559-2922_1559-2920delinsCCA
ENST00000456676.7:c.1777_1779delinsCCA ENSP00000416687.3:p.Pro593=
ENST00000492474.6:c.1054_1056delinsCCA ENSP00000518393.1:p.Pro352=
ENST00000616768.6:c.1777_1779delinsCCA ENSP00000480669.3:p.Pro593=
ENST00000673673.2:c.1732-953_1732-951delinsCCA ENSP00000500979.2:n.1732-953_1732-951delinsCCA
ENST00000231790.8:c.1777_1779delinsCCA MANE Select ENSP00000231790.3:p.Pro593=
ENST00000413212.2:c.*695_*697delinsCCA ENSP00000400844.2:n.*695_*697delinsCCA
ENST00000432299.6:c.*1609_*1611delinsCCA ENSP00000416783.1:n.*1609_*1611delinsCCA
ENST00000441265.6:c.*6_*8delinsCCA ENSP00000398392.2:n.*6_*8delinsCCA
ENST00000447829.6:c.*888_*890delinsCCA ENSP00000399329.2:n.*888_*890delinsCCA
ENST00000539477.6:c.1054_1056delinsCCA ENSP00000443665.1:p.Pro352=
ENST00000616768.5:c.814_816delinsCCA ENSP00000480669.2:p.Pro272=
ENST00000673673.1:c.1685-953_1685-951delinsCCA
ENST00000673715.1:c.1777_1779delinsCCA ENSP00000501301.1:p.Pro593=
ENST00000673741.1:n.811_813delinsCCA
ENST00000673889.1:n.1159_1161delinsCCA
ENST00000673897.1:c.*1569_*1571delinsCCA ENSP00000501109.1:n.*1569_*1571delinsCCA
ENST00000673899.1:c.1045_1047delinsCCA ENSP00000501030.1:p.Pro349=
ENST00000673947.1:c.*1917_*1919delinsCCA ENSP00000501304.1:n.*1917_*1919delinsCCA
ENST00000673972.1:c.*1655_*1657delinsCCA ENSP00000501281.1:n.*1655_*1657delinsCCA
ENST00000673990.1:n.1668_1670delinsCCA
ENST00000674019.1:c.1054_1056delinsCCA ENSP00000501081.1:p.Pro352=
ENST00000674111.1:c.*6_*8delinsCCA ENSP00000501162.1:n.*6_*8delinsCCA
ENST00000674125.1:n.488_490delinsCCA
ENST00000231790.6:c.1777_1779delinsCCA ENSP00000231790.2:p.Pro593=
ENST00000413740.1:c.291-2922_291-2920delinsCCA ENSP00000416476.1:n.291-2922_291-2920delinsCCA
ENST00000435176.5:c.1483_1485delinsCCA ENSP00000402564.1:p.Pro495=
ENST00000450420.5:c.182-2922_182-2920delinsCCA ENSP00000393006.1:n.182-2922_182-2920delinsCCA
ENST00000455445.6:c.1054_1056delinsCCA ENSP00000398272.2:p.Pro352=
ENST00000456676.6:c.1752_1754delinsCCA
ENST00000458205.6:c.1054_1056delinsCCA ENSP00000402667.2:p.Pro352=
ENST00000536378.5:c.1054_1056delinsCCA ENSP00000444286.2:p.Pro352=
ENST00000539477.5:c.1054_1056delinsCCA ENSP00000443665.1:p.Pro352=
ENST00000616768.4:c.545_547delinsCCA
NM_000249.3:c.1777_1779delinsCCA , LRG_216t1:c.1777_1779delinsCCA NP_000240.1:p.Pro593=
NM_001167617.1:c.1483_1485delinsCCA NP_001161089.1:p.Pro495=
NM_001167618.1:c.1054_1056delinsCCA NP_001161090.1:p.Pro352=
NM_001167619.1:c.1054_1056delinsCCA NP_001161091.1:p.Pro352=
NM_001258271.1:c.1777_1779delinsCCA NP_001245200.1:p.Pro593=
NM_001258273.1:c.1054_1056delinsCCA NP_001245202.1:p.Pro352=
NM_001258274.1:c.1054_1056delinsCCA NP_001245203.1:p.Pro352=
XM_005265161.1:c.1570_1572delinsCCA XP_005265218.1:p.Pro524=
XM_005265163.1:c.1054_1056delinsCCA XP_005265220.1:p.Pro352=
XM_005265164.1:c.1054_1056delinsCCA XP_005265221.1:p.Pro352=
XM_005265166.1:c.754_756delinsCCA XP_005265223.1:p.Pro252=
XM_011533727.1:c.703_705delinsCCA XP_011532029.1:p.Pro235=
NM_001167617.2:c.1483_1485delinsCCA NP_001161089.1:p.Pro495=
NM_001167618.2:c.1054_1056delinsCCA NP_001161090.1:p.Pro352=
NM_001167619.2:c.1054_1056delinsCCA NP_001161091.1:p.Pro352=
NM_001258274.2:c.1054_1056delinsCCA NP_001245203.1:p.Pro352=
NM_001354615.1:c.1054_1056delinsCCA NP_001341544.1:p.Pro352=
NM_001354616.1:c.1054_1056delinsCCA NP_001341545.1:p.Pro352=
NM_001354617.1:c.1054_1056delinsCCA NP_001341546.1:p.Pro352=
NM_001354618.1:c.1054_1056delinsCCA NP_001341547.1:p.Pro352=
NM_001354619.1:c.1054_1056delinsCCA NP_001341548.1:p.Pro352=
NM_001354620.1:c.1483_1485delinsCCA NP_001341549.1:p.Pro495=
NM_001354621.1:c.754_756delinsCCA NP_001341550.1:p.Pro252=
NM_001354622.1:c.754_756delinsCCA NP_001341551.1:p.Pro252=
NM_001354623.1:c.754_756delinsCCA NP_001341552.1:p.Pro252=
NM_001354624.1:c.703_705delinsCCA NP_001341553.1:p.Pro235=
NM_001354625.1:c.703_705delinsCCA NP_001341554.1:p.Pro235=
NM_001354626.1:c.703_705delinsCCA NP_001341555.1:p.Pro235=
NM_001354627.1:c.703_705delinsCCA NP_001341556.1:p.Pro235=
NM_001354628.1:c.1777_1779delinsCCA NP_001341557.1:p.Pro593=
NM_001354629.1:c.1678_1680delinsCCA NP_001341558.1:p.Pro560=
NM_001354630.1:c.1732-953_1732-951delinsCCA NP_001341559.1:n.1732-953_1732-951delinsCCA
XM_005265161.2:c.1570_1572delinsCCA XP_005265218.1:p.Pro524=
XM_017006450.2:c.754_756delinsCCA XP_016861939.1:p.Pro252=
NM_000249.4:c.1777_1779delinsCCA MANE Select NP_000240.1:p.Pro593=
NM_001167617.3:c.1483_1485delinsCCA NP_001161089.1:p.Pro495=
NM_001167618.3:c.1054_1056delinsCCA NP_001161090.1:p.Pro352=
NM_001167619.3:c.1054_1056delinsCCA NP_001161091.1:p.Pro352=
NM_001258271.2:c.1777_1779delinsCCA NP_001245200.1:p.Pro593=
NM_001258273.2:c.1054_1056delinsCCA NP_001245202.1:p.Pro352=
NM_001258274.3:c.1054_1056delinsCCA NP_001245203.1:p.Pro352=
NM_001354615.2:c.1054_1056delinsCCA NP_001341544.1:p.Pro352=
NM_001354616.2:c.1054_1056delinsCCA NP_001341545.1:p.Pro352=
NM_001354617.2:c.1054_1056delinsCCA NP_001341546.1:p.Pro352=
NM_001354618.2:c.1054_1056delinsCCA NP_001341547.1:p.Pro352=
NM_001354619.2:c.1054_1056delinsCCA NP_001341548.1:p.Pro352=
NM_001354620.2:c.1483_1485delinsCCA NP_001341549.1:p.Pro495=
NM_001354621.2:c.754_756delinsCCA NP_001341550.1:p.Pro252=
NM_001354622.2:c.754_756delinsCCA NP_001341551.1:p.Pro252=
NM_001354623.2:c.754_756delinsCCA NP_001341552.1:p.Pro252=
NM_001354624.2:c.703_705delinsCCA NP_001341553.1:p.Pro235=
NM_001354625.2:c.703_705delinsCCA NP_001341554.1:p.Pro235=
NM_001354626.2:c.703_705delinsCCA NP_001341555.1:p.Pro235=
NM_001354627.2:c.703_705delinsCCA NP_001341556.1:p.Pro235=
NM_001354628.2:c.1777_1779delinsCCA NP_001341557.1:p.Pro593=
NM_001354629.2:c.1678_1680delinsCCA NP_001341558.1:p.Pro560=
NM_001354630.2:c.1732-953_1732-951delinsCCA NP_001341559.1:n.1732-953_1732-951delinsCCA