Canonical Allele Identifier: CA005731

Gene: MLH1

Linked Data

• ClinVar Variation Id: 182512
• ClinVar RCV Id: RCV000160515 ; RCV003453263
• dbSNP Id: rs63750028
• MyVariant Identifiers: chr3:g.37038148_37038149del (hg19) ; chr3:g.36996657_36996658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36996657_36996658del , CM000665.2:g.36996657_36996658del	GRCh38
NC_000003.11:g.37038148_37038149del , CM000665.1:g.37038148_37038149del	GRCh37
NC_000003.10:g.37013152_37013153del	NCBI36
NG_007109.2:g.8308_8309del , LRG_216:g.8308_8309del
NG_008418.1:g.1648_1649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.155_156del	ENSP00000416476.2:p.Lys52ArgfsTer26
ENST00000429117.6:c.-135_-134del	ENSP00000407019.2:n.-135_-134del
ENST00000450420.6:c.155_156del	ENSP00000393006.2:p.Lys52ArgfsTer26
ENST00000456676.7:c.155_156del	ENSP00000416687.3:p.Lys52ArgfsTer26
ENST00000458009.6:c.155_156del	ENSP00000411066.2:p.Lys52ArgfsTer26
ENST00000492474.6:c.-569_-568del	ENSP00000518393.1:n.-569_-568del
ENST00000616768.6:c.155_156del	ENSP00000480669.3:p.Lys52ArgfsTer26
ENST00000673673.2:c.155_156del	ENSP00000500979.2:p.Lys52ArgfsTer26
ENST00000231790.8:c.155_156del MANE Select	ENSP00000231790.3:p.Lys52ArgfsTer26
ENST00000413212.2:c.-569_-568del	ENSP00000400844.2:n.-569_-568del
ENST00000432299.6:c.*235_*236del	ENSP00000416783.1:n.*235_*236del
ENST00000441265.6:c.-569_-568del	ENSP00000398392.2:n.-569_-568del
ENST00000442249.6:n.170_171del
ENST00000447829.6:c.-135_-134del	ENSP00000399329.2:n.-135_-134del
ENST00000476172.6:n.1120-1313_1120-1312del
ENST00000539477.6:c.-477_-476del	ENSP00000443665.1:n.-477_-476del
ENST00000673673.1:c.108_109del
ENST00000673686.1:n.145_146del
ENST00000673713.1:n.186_187del
ENST00000673715.1:c.155_156del	ENSP00000501301.1:p.Lys52ArgfsTer26
ENST00000673897.1:c.116+2994_116+2995del	ENSP00000501109.1:n.116+2994_116+2995del
ENST00000673899.1:c.155_156del	ENSP00000501030.1:p.Lys52ArgfsTer26
ENST00000673947.1:c.*295_*296del	ENSP00000501304.1:n.*295_*296del
ENST00000673972.1:c.*33_*34del	ENSP00000501281.1:n.*33_*34del
ENST00000673990.1:n.140_141del
ENST00000674019.1:c.-569_-568del	ENSP00000501081.1:n.-569_-568del
ENST00000674107.1:n.97_98del
ENST00000674111.1:c.155_156del	ENSP00000501162.1:p.Lys52ArgfsTer26
ENST00000231790.6:c.155_156del	ENSP00000231790.2:p.Lys52ArgfsTer26
ENST00000429117.5:c.-135_-134del	ENSP00000407019.1:n.-135_-134del
ENST00000432299.5:c.*235_*236del	ENSP00000416783.1:n.*235_*236del
ENST00000435176.5:c.-135_-134del	ENSP00000402564.1:n.-135_-134del
ENST00000441265.5:c.-477_-476del	ENSP00000398392.1:n.-477_-476del
ENST00000442249.5:c.116+2994_116+2995del	ENSP00000387511.1:n.116+2994_116+2995del
ENST00000454028.5:c.*33_*34del	ENSP00000392649.1:n.*33_*34del
ENST00000455445.6:c.-569_-568del	ENSP00000398272.2:n.-569_-568del
ENST00000456676.6:c.130_131del
ENST00000457004.5:c.*33_*34del	ENSP00000407773.1:n.*33_*34del
ENST00000458205.6:c.-714_-713del	ENSP00000402667.2:n.-714_-713del
ENST00000466900.5:n.82_83del
ENST00000476172.5:n.277_278del
ENST00000485889.1:n.159_160del
ENST00000492474.5:n.178_179del
ENST00000536378.5:c.-517+2994_-517+2995del	ENSP00000444286.2:n.-517+2994_-517+2995del
ENST00000539477.5:c.-477_-476del	ENSP00000443665.1:n.-477_-476del
NM_000249.3:c.155_156del , LRG_216t1:c.155_156del	NP_000240.1:p.Lys52ArgfsTer26
NM_001167617.1:c.-135_-134del	NP_001161089.1:n.-135_-134del
NM_001167618.1:c.-569_-568del	NP_001161090.1:n.-569_-568del
NM_001167619.1:c.-477_-476del	NP_001161091.1:n.-477_-476del
NM_001258271.1:c.155_156del	NP_001245200.1:p.Lys52ArgfsTer26
NM_001258273.1:c.-517+2994_-517+2995del	NP_001245202.1:n.-517+2994_-517+2995del
NM_001258274.1:c.-714_-713del	NP_001245203.1:n.-714_-713del
XM_005265161.1:c.155_156del	XP_005265218.1:p.Lys52ArgfsTer26
XM_005265163.1:c.-569_-568del	XP_005265220.1:n.-569_-568del
XM_005265164.1:c.-569_-568del	XP_005265221.1:n.-569_-568del
XM_005265166.1:c.-775_-774del	XP_005265223.1:n.-775_-774del
XM_011533727.1:c.-672_-671del	XP_011532029.1:n.-672_-671del
NM_001167617.2:c.-135_-134del	NP_001161089.1:n.-135_-134del
NM_001167618.2:c.-569_-568del	NP_001161090.1:n.-569_-568del
NM_001167619.2:c.-477_-476del	NP_001161091.1:n.-477_-476del
NM_001258274.2:c.-714_-713del	NP_001245203.1:n.-714_-713del
NM_001354615.1:c.-472_-471del	NP_001341544.1:n.-472_-471del
NM_001354616.1:c.-477_-476del	NP_001341545.1:n.-477_-476del
NM_001354617.1:c.-569_-568del	NP_001341546.1:n.-569_-568del
NM_001354618.1:c.-569_-568del	NP_001341547.1:n.-569_-568del
NM_001354619.1:c.-569_-568del	NP_001341548.1:n.-569_-568del
NM_001354620.1:c.-135_-134del	NP_001341549.1:n.-135_-134del
NM_001354621.1:c.-662_-661del	NP_001341550.1:n.-662_-661del
NM_001354622.1:c.-775_-774del	NP_001341551.1:n.-775_-774del
NM_001354623.1:c.-723+2767_-723+2768del	NP_001341552.1:n.-723+2767_-723+2768del
NM_001354624.1:c.-672_-671del	NP_001341553.1:n.-672_-671del
NM_001354625.1:c.-575_-574del	NP_001341554.1:n.-575_-574del
NM_001354626.1:c.-672_-671del	NP_001341555.1:n.-672_-671del
NM_001354627.1:c.-672_-671del	NP_001341556.1:n.-672_-671del
NM_001354628.1:c.155_156del	NP_001341557.1:p.Lys52ArgfsTer26
NM_001354629.1:c.155_156del	NP_001341558.1:p.Lys52ArgfsTer?
NM_001354630.1:c.155_156del	NP_001341559.1:p.Lys52ArgfsTer26
XM_005265161.2:c.155_156del	XP_005265218.1:p.Lys52ArgfsTer26
XM_017006450.2:c.-662_-661del	XP_016861939.1:n.-662_-661del
NM_000249.4:c.155_156del MANE Select	NP_000240.1:p.Lys52ArgfsTer26
NM_001167617.3:c.-135_-134del	NP_001161089.1:n.-135_-134del
NM_001167618.3:c.-569_-568del	NP_001161090.1:n.-569_-568del
NM_001167619.3:c.-477_-476del	NP_001161091.1:n.-477_-476del
NM_001258271.2:c.155_156del	NP_001245200.1:p.Lys52ArgfsTer26
NM_001258273.2:c.-517+2994_-517+2995del	NP_001245202.1:n.-517+2994_-517+2995del
NM_001258274.3:c.-714_-713del	NP_001245203.1:n.-714_-713del
NM_001354615.2:c.-472_-471del	NP_001341544.1:n.-472_-471del
NM_001354616.2:c.-477_-476del	NP_001341545.1:n.-477_-476del
NM_001354617.2:c.-569_-568del	NP_001341546.1:n.-569_-568del
NM_001354618.2:c.-569_-568del	NP_001341547.1:n.-569_-568del
NM_001354619.2:c.-569_-568del	NP_001341548.1:n.-569_-568del
NM_001354620.2:c.-135_-134del	NP_001341549.1:n.-135_-134del
NM_001354621.2:c.-662_-661del	NP_001341550.1:n.-662_-661del
NM_001354622.2:c.-775_-774del	NP_001341551.1:n.-775_-774del
NM_001354623.2:c.-723+2767_-723+2768del	NP_001341552.1:n.-723+2767_-723+2768del
NM_001354624.2:c.-672_-671del	NP_001341553.1:n.-672_-671del
NM_001354625.2:c.-575_-574del	NP_001341554.1:n.-575_-574del
NM_001354626.2:c.-672_-671del	NP_001341555.1:n.-672_-671del
NM_001354627.2:c.-672_-671del	NP_001341556.1:n.-672_-671del
NM_001354628.2:c.155_156del	NP_001341557.1:p.Lys52ArgfsTer26
NM_001354629.2:c.155_156del	NP_001341558.1:p.Lys52ArgfsTer?
NM_001354630.2:c.155_156del	NP_001341559.1:p.Lys52ArgfsTer26