Canonical Allele Identifier: CA2595701831

Gene: MLH1

Linked Data

• gnomAD v3: 3-36993788-GGCCGCCGGGTT-G
• gnomAD v4: 3-36993788-GGCCGCCGGGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993789_36993799del , CM000665.2:g.36993789_36993799del	GRCh38
NC_000003.11:g.37035280_37035290del , CM000665.1:g.37035280_37035290del	GRCh37
NC_000003.10:g.37010284_37010294del	NCBI36
NG_007109.2:g.5440_5450del , LRG_216:g.5440_5450del
NG_008418.1:g.4506_4516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.116+126_116+136del	ENSP00000416476.2:n.116+126_116+136del
ENST00000450420.6:c.116+126_116+136del	ENSP00000393006.2:n.116+126_116+136del
ENST00000456676.7:c.116+126_116+136del	ENSP00000416687.3:n.116+126_116+136del
ENST00000458009.6:c.116+126_116+136del	ENSP00000411066.2:n.116+126_116+136del
ENST00000616768.6:c.116+126_116+136del	ENSP00000480669.3:n.116+126_116+136del
ENST00000673673.2:c.116+126_116+136del	ENSP00000500979.2:n.116+126_116+136del
ENST00000231790.8:c.116+126_116+136del MANE Select	ENSP00000231790.3:n.116+126_116+136del
ENST00000413212.2:c.-709_-699del	ENSP00000400844.2:n.-709_-699del
ENST00000432299.6:c.*95_*105del	ENSP00000416783.1:n.*95_*105del
ENST00000442249.6:n.131+126_131+136del
ENST00000447829.6:c.-275_-265del	ENSP00000399329.2:n.-275_-265del
ENST00000476172.6:n.5_15del
ENST00000673673.1:c.69+126_69+136del
ENST00000673686.1:n.5_15del
ENST00000673713.1:n.147+126_147+136del
ENST00000673715.1:c.116+126_116+136del	ENSP00000501301.1:n.116+126_116+136del
ENST00000673897.1:c.116+126_116+136del	ENSP00000501109.1:n.116+126_116+136del
ENST00000673899.1:c.116+126_116+136del	ENSP00000501030.1:n.116+126_116+136del
ENST00000673947.1:c.116+126_116+136del	ENSP00000501304.1:n.116+126_116+136del
ENST00000673972.1:c.116+126_116+136del	ENSP00000501281.1:n.116+126_116+136del
ENST00000673990.1:n.5_15del
ENST00000674019.1:c.-833_-823del	ENSP00000501081.1:n.-833_-823del
ENST00000674111.1:c.116+126_116+136del	ENSP00000501162.1:n.116+126_116+136del
ENST00000231790.6:c.116+126_116+136del	ENSP00000231790.2:n.116+126_116+136del
ENST00000432299.5:c.*95_*105del	ENSP00000416783.1:n.*95_*105del
ENST00000442249.5:c.116+126_116+136del	ENSP00000387511.1:n.116+126_116+136del
ENST00000454028.5:c.116+126_116+136del	ENSP00000392649.1:n.116+126_116+136del
ENST00000456676.6:c.91+126_91+136del
ENST00000457004.5:c.116+126_116+136del	ENSP00000407773.1:n.116+126_116+136del
ENST00000458205.6:c.-854_-844del	ENSP00000402667.2:n.-854_-844del
ENST00000476172.5:n.13_23del
ENST00000536378.5:c.-517+126_-517+136del	ENSP00000444286.2:n.-517+126_-517+136del
ENST00000539477.5:c.-617_-607del	ENSP00000443665.1:n.-617_-607del
NM_000249.3:c.116+126_116+136del , LRG_216t1:c.116+126_116+136del	NP_000240.1:n.116+126_116+136del
NM_001167617.1:c.-275_-265del	NP_001161089.1:n.-275_-265del
NM_001167618.1:c.-704_-694del	NP_001161090.1:n.-704_-694del
NM_001167619.1:c.-617_-607del	NP_001161091.1:n.-617_-607del
NM_001258271.1:c.116+126_116+136del	NP_001245200.1:n.116+126_116+136del
NM_001258273.1:c.-517+126_-517+136del	NP_001245202.1:n.-517+126_-517+136del
NM_001258274.1:c.-854_-844del	NP_001245203.1:n.-854_-844del
XM_005265161.1:c.116+126_116+136del	XP_005265218.1:n.116+126_116+136del
XM_005265163.1:c.-709_-699del	XP_005265220.1:n.-709_-699del
XM_005265164.1:c.-603+126_-603+136del	XP_005265221.1:n.-603+126_-603+136del
XM_005265166.1:c.-915_-905del	XP_005265223.1:n.-915_-905del
XM_011533727.1:c.-812_-802del	XP_011532029.1:n.-812_-802del
NM_001167617.2:c.-275_-265del	NP_001161089.1:n.-275_-265del
NM_001167618.2:c.-704_-694del	NP_001161090.1:n.-704_-694del
NM_001167619.2:c.-617_-607del	NP_001161091.1:n.-617_-607del
NM_001258274.2:c.-854_-844del	NP_001245203.1:n.-854_-844del
NM_001354615.1:c.-511+126_-511+136del	NP_001341544.1:n.-511+126_-511+136del
NM_001354616.1:c.-511+126_-511+136del	NP_001341545.1:n.-511+126_-511+136del
NM_001354617.1:c.-603+126_-603+136del	NP_001341546.1:n.-603+126_-603+136del
NM_001354618.1:c.-709_-699del	NP_001341547.1:n.-709_-699del
NM_001354619.1:c.-833_-823del	NP_001341548.1:n.-833_-823del
NM_001354620.1:c.-169+126_-169+136del	NP_001341549.1:n.-169+126_-169+136del
NM_001354621.1:c.-802_-792del	NP_001341550.1:n.-802_-792del
NM_001354622.1:c.-915_-905del	NP_001341551.1:n.-915_-905del
NM_001354623.1:c.-824_-814del	NP_001341552.1:n.-824_-814del
NM_001354624.1:c.-711+126_-711+136del	NP_001341553.1:n.-711+126_-711+136del
NM_001354625.1:c.-609+126_-609+136del	NP_001341554.1:n.-609+126_-609+136del
NM_001354626.1:c.-706+126_-706+136del	NP_001341555.1:n.-706+126_-706+136del
NM_001354627.1:c.-812_-802del	NP_001341556.1:n.-812_-802del
NM_001354628.1:c.116+126_116+136del	NP_001341557.1:n.116+126_116+136del
NM_001354629.1:c.116+126_116+136del	NP_001341558.1:n.116+126_116+136del
NM_001354630.1:c.116+126_116+136del	NP_001341559.1:n.116+126_116+136del
XM_005265161.2:c.116+126_116+136del	XP_005265218.1:n.116+126_116+136del
XM_017006450.2:c.-696+126_-696+136del	XP_016861939.1:n.-696+126_-696+136del
NM_000249.4:c.116+126_116+136del MANE Select	NP_000240.1:n.116+126_116+136del
NM_001167617.3:c.-275_-265del	NP_001161089.1:n.-275_-265del
NM_001167618.3:c.-704_-694del	NP_001161090.1:n.-704_-694del
NM_001167619.3:c.-617_-607del	NP_001161091.1:n.-617_-607del
NM_001258271.2:c.116+126_116+136del	NP_001245200.1:n.116+126_116+136del
NM_001258273.2:c.-517+126_-517+136del	NP_001245202.1:n.-517+126_-517+136del
NM_001258274.3:c.-854_-844del	NP_001245203.1:n.-854_-844del
NM_001354615.2:c.-511+126_-511+136del	NP_001341544.1:n.-511+126_-511+136del
NM_001354616.2:c.-511+126_-511+136del	NP_001341545.1:n.-511+126_-511+136del
NM_001354617.2:c.-603+126_-603+136del	NP_001341546.1:n.-603+126_-603+136del
NM_001354618.2:c.-709_-699del	NP_001341547.1:n.-709_-699del
NM_001354619.2:c.-833_-823del	NP_001341548.1:n.-833_-823del
NM_001354620.2:c.-169+126_-169+136del	NP_001341549.1:n.-169+126_-169+136del
NM_001354621.2:c.-802_-792del	NP_001341550.1:n.-802_-792del
NM_001354622.2:c.-915_-905del	NP_001341551.1:n.-915_-905del
NM_001354623.2:c.-824_-814del	NP_001341552.1:n.-824_-814del
NM_001354624.2:c.-711+126_-711+136del	NP_001341553.1:n.-711+126_-711+136del
NM_001354625.2:c.-609+126_-609+136del	NP_001341554.1:n.-609+126_-609+136del
NM_001354626.2:c.-706+126_-706+136del	NP_001341555.1:n.-706+126_-706+136del
NM_001354627.2:c.-812_-802del	NP_001341556.1:n.-812_-802del
NM_001354628.2:c.116+126_116+136del	NP_001341557.1:n.116+126_116+136del
NM_001354629.2:c.116+126_116+136del	NP_001341558.1:n.116+126_116+136del
NM_001354630.2:c.116+126_116+136del	NP_001341559.1:n.116+126_116+136del