Canonical Allele Identifier: CA2695197880

Gene: MLH1

Linked Data

• ClinVar Variation Id: 2674485
• ClinVar RCV Id: RCV003452680

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050618_37050619insG , CM000665.2:g.37050618_37050619insG	GRCh38
NC_000003.11:g.37092109_37092110insG , CM000665.1:g.37092109_37092110insG	GRCh37
NC_000003.10:g.37067113_37067114insG	NCBI36
NG_007109.2:g.62269_62270insG , LRG_216:g.62269_62270insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1800_1801insG	ENSP00000416476.2:p.Cys601ValfsTer12
ENST00000429117.6:c.1942_1943insG	ENSP00000407019.2:p.Leu648ArgfsTer3
ENST00000456676.7:c.2029_2030insG	ENSP00000416687.3:p.Leu677ArgfsTer3
ENST00000492474.6:c.1513_1514insG	ENSP00000518393.1:p.Leu505ArgfsTer3
ENST00000616768.6:c.2143_2144insG	ENSP00000480669.3:p.Leu715ArgfsTer3
ENST00000673673.2:c.2071_2072insG	ENSP00000500979.2:p.Leu691ArgfsTer3
ENST00000231790.8:c.2236_2237insG MANE Select	ENSP00000231790.3:p.Leu746ArgfsTer3
ENST00000413212.2:c.*1154_*1155insG	ENSP00000400844.2:n.*1154_*1155insG
ENST00000432299.6:c.*2068_*2069insG	ENSP00000416783.1:n.*2068_*2069insG
ENST00000447829.6:c.*1347_*1348insG	ENSP00000399329.2:n.*1347_*1348insG
ENST00000539477.6:c.1513_1514insG	ENSP00000443665.1:p.Leu505ArgfsTer3
ENST00000616768.5:c.1180_1181insG	ENSP00000480669.2:p.Leu394ArgfsTer3
ENST00000673673.1:c.2024_2025insG
ENST00000673741.1:n.1270_1271insG
ENST00000673889.1:n.1618_1619insG
ENST00000673897.1:c.*2028_*2029insG	ENSP00000501109.1:n.*2028_*2029insG
ENST00000673899.1:c.1504_1505insG	ENSP00000501030.1:p.Leu502ArgfsTer3
ENST00000673947.1:c.*2376_*2377insG	ENSP00000501304.1:n.*2376_*2377insG
ENST00000673972.1:c.*2114_*2115insG	ENSP00000501281.1:n.*2114_*2115insG
ENST00000674019.1:c.1513_1514insG	ENSP00000501081.1:p.Leu505ArgfsTer3
ENST00000674111.1:c.*465_*466insG	ENSP00000501162.1:n.*465_*466insG
ENST00000674125.1:n.947_948insG
ENST00000231790.6:c.2236_2237insG	ENSP00000231790.2:p.Leu746ArgfsTer3
ENST00000435176.5:c.1942_1943insG	ENSP00000402564.1:p.Leu648ArgfsTer3
ENST00000455445.6:c.1513_1514insG	ENSP00000398272.2:p.Leu505ArgfsTer3
ENST00000456676.6:c.2004_2005insG
ENST00000458205.6:c.1513_1514insG	ENSP00000402667.2:p.Leu505ArgfsTer3
ENST00000536378.5:c.1513_1514insG	ENSP00000444286.2:p.Leu505ArgfsTer3
ENST00000539477.5:c.1513_1514insG	ENSP00000443665.1:p.Leu505ArgfsTer3
NM_000249.3:c.2236_2237insG , LRG_216t1:c.2236_2237insG	NP_000240.1:p.Leu746ArgfsTer3
NM_001167617.1:c.1942_1943insG	NP_001161089.1:p.Leu648ArgfsTer3
NM_001167618.1:c.1513_1514insG	NP_001161090.1:p.Leu505ArgfsTer3
NM_001167619.1:c.1513_1514insG	NP_001161091.1:p.Leu505ArgfsTer3
NM_001258271.1:c.2029_2030insG	NP_001245200.1:p.Leu677ArgfsTer3
NM_001258273.1:c.1513_1514insG	NP_001245202.1:p.Leu505ArgfsTer3
NM_001258274.1:c.1513_1514insG	NP_001245203.1:p.Leu505ArgfsTer3
XM_005265161.1:c.2029_2030insG	XP_005265218.1:p.Leu677ArgfsTer3
XM_005265163.1:c.1513_1514insG	XP_005265220.1:p.Leu505ArgfsTer3
XM_005265164.1:c.1513_1514insG	XP_005265221.1:p.Leu505ArgfsTer3
XM_005265166.1:c.1213_1214insG	XP_005265223.1:p.Leu405ArgfsTer3
XM_011533727.1:c.1162_1163insG	XP_011532029.1:p.Leu388ArgfsTer3
NM_001167617.2:c.1942_1943insG	NP_001161089.1:p.Leu648ArgfsTer3
NM_001167618.2:c.1513_1514insG	NP_001161090.1:p.Leu505ArgfsTer3
NM_001167619.2:c.1513_1514insG	NP_001161091.1:p.Leu505ArgfsTer3
NM_001258274.2:c.1513_1514insG	NP_001245203.1:p.Leu505ArgfsTer3
NM_001354615.1:c.1513_1514insG	NP_001341544.1:p.Leu505ArgfsTer3
NM_001354616.1:c.1513_1514insG	NP_001341545.1:p.Leu505ArgfsTer3
NM_001354617.1:c.1513_1514insG	NP_001341546.1:p.Leu505ArgfsTer3
NM_001354618.1:c.1513_1514insG	NP_001341547.1:p.Leu505ArgfsTer3
NM_001354619.1:c.1513_1514insG	NP_001341548.1:p.Leu505ArgfsTer3
NM_001354620.1:c.1942_1943insG	NP_001341549.1:p.Leu648ArgfsTer3
NM_001354621.1:c.1213_1214insG	NP_001341550.1:p.Leu405ArgfsTer3
NM_001354622.1:c.1213_1214insG	NP_001341551.1:p.Leu405ArgfsTer3
NM_001354623.1:c.1213_1214insG	NP_001341552.1:p.Leu405ArgfsTer3
NM_001354624.1:c.1162_1163insG	NP_001341553.1:p.Leu388ArgfsTer3
NM_001354625.1:c.1162_1163insG	NP_001341554.1:p.Leu388ArgfsTer3
NM_001354626.1:c.1162_1163insG	NP_001341555.1:p.Leu388ArgfsTer3
NM_001354627.1:c.1162_1163insG	NP_001341556.1:p.Leu388ArgfsTer3
NM_001354628.1:c.2143_2144insG	NP_001341557.1:p.Leu715ArgfsTer3
NM_001354629.1:c.2137_2138insG	NP_001341558.1:p.Leu713ArgfsTer3
NM_001354630.1:c.2071_2072insG	NP_001341559.1:p.Leu691ArgfsTer3
XM_005265161.2:c.2029_2030insG	XP_005265218.1:p.Leu677ArgfsTer3
XM_017006450.2:c.1213_1214insG	XP_016861939.1:p.Leu405ArgfsTer3
NM_000249.4:c.2236_2237insG MANE Select	NP_000240.1:p.Leu746ArgfsTer3
NM_001167617.3:c.1942_1943insG	NP_001161089.1:p.Leu648ArgfsTer3
NM_001167618.3:c.1513_1514insG	NP_001161090.1:p.Leu505ArgfsTer3
NM_001167619.3:c.1513_1514insG	NP_001161091.1:p.Leu505ArgfsTer3
NM_001258271.2:c.2029_2030insG	NP_001245200.1:p.Leu677ArgfsTer3
NM_001258273.2:c.1513_1514insG	NP_001245202.1:p.Leu505ArgfsTer3
NM_001258274.3:c.1513_1514insG	NP_001245203.1:p.Leu505ArgfsTer3
NM_001354615.2:c.1513_1514insG	NP_001341544.1:p.Leu505ArgfsTer3
NM_001354616.2:c.1513_1514insG	NP_001341545.1:p.Leu505ArgfsTer3
NM_001354617.2:c.1513_1514insG	NP_001341546.1:p.Leu505ArgfsTer3
NM_001354618.2:c.1513_1514insG	NP_001341547.1:p.Leu505ArgfsTer3
NM_001354619.2:c.1513_1514insG	NP_001341548.1:p.Leu505ArgfsTer3
NM_001354620.2:c.1942_1943insG	NP_001341549.1:p.Leu648ArgfsTer3
NM_001354621.2:c.1213_1214insG	NP_001341550.1:p.Leu405ArgfsTer3
NM_001354622.2:c.1213_1214insG	NP_001341551.1:p.Leu405ArgfsTer3
NM_001354623.2:c.1213_1214insG	NP_001341552.1:p.Leu405ArgfsTer3
NM_001354624.2:c.1162_1163insG	NP_001341553.1:p.Leu388ArgfsTer3
NM_001354625.2:c.1162_1163insG	NP_001341554.1:p.Leu388ArgfsTer3
NM_001354626.2:c.1162_1163insG	NP_001341555.1:p.Leu388ArgfsTer3
NM_001354627.2:c.1162_1163insG	NP_001341556.1:p.Leu388ArgfsTer3
NM_001354628.2:c.2143_2144insG	NP_001341557.1:p.Leu715ArgfsTer3
NM_001354629.2:c.2137_2138insG	NP_001341558.1:p.Leu713ArgfsTer3
NM_001354630.2:c.2071_2072insG	NP_001341559.1:p.Leu691ArgfsTer3