Canonical Allele Identifier: CA72793000

Gene: MLH1

Linked Data

• dbSNP Id: rs1030255031
• MyVariant Identifiers: chr3:g.37061230_37061231insA (hg19) ; chr3:g.37019739_37019740insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37019739_37019740insA , CM000665.2:g.37019739_37019740insA	GRCh38
NC_000003.11:g.37061230_37061231insA , CM000665.1:g.37061230_37061231insA	GRCh37
NC_000003.10:g.37036234_37036235insA	NCBI36
NG_007109.2:g.31390_31391insA , LRG_216:g.31390_31391insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.885-571_885-570insA	ENSP00000416476.2:n.885-571_885-570insA
ENST00000429117.6:c.591-571_591-570insA	ENSP00000407019.2:n.591-571_591-570insA
ENST00000450420.6:c.885-571_885-570insA	ENSP00000393006.2:n.885-571_885-570insA
ENST00000456676.7:c.885-571_885-570insA	ENSP00000416687.3:n.885-571_885-570insA
ENST00000458009.6:c.884+2140_884+2141insA	ENSP00000411066.2:n.884+2140_884+2141insA
ENST00000492474.6:c.162-571_162-570insA	ENSP00000518393.1:n.162-571_162-570insA
ENST00000616768.6:c.885-571_885-570insA	ENSP00000480669.3:n.885-571_885-570insA
ENST00000673673.2:c.885-571_885-570insA	ENSP00000500979.2:n.885-571_885-570insA
ENST00000231790.8:c.885-571_885-570insA MANE Select	ENSP00000231790.3:n.885-571_885-570insA
ENST00000413212.2:c.67+5195_67+5196insA	ENSP00000400844.2:n.67+5195_67+5196insA
ENST00000432299.6:c.*870+5195_*870+5196insA	ENSP00000416783.1:n.*870+5195_*870+5196insA
ENST00000441265.6:c.162-571_162-570insA	ENSP00000398392.2:n.162-571_162-570insA
ENST00000442249.6:n.693-571_693-570insA
ENST00000447829.6:c.428-571_428-570insA	ENSP00000399329.2:n.428-571_428-570insA
ENST00000539477.6:c.162-571_162-570insA	ENSP00000443665.1:n.162-571_162-570insA
ENST00000673673.1:c.838-571_838-570insA
ENST00000673713.1:n.916-571_916-570insA
ENST00000673715.1:c.885-571_885-570insA	ENSP00000501301.1:n.885-571_885-570insA
ENST00000673889.1:n.267-571_267-570insA
ENST00000673897.1:c.*677-571_*677-570insA	ENSP00000501109.1:n.*677-571_*677-570insA
ENST00000673899.1:c.677+7640_677+7641insA	ENSP00000501030.1:n.677+7640_677+7641insA
ENST00000673947.1:c.*1025-571_*1025-570insA	ENSP00000501304.1:n.*1025-571_*1025-570insA
ENST00000673972.1:c.*763-571_*763-570insA	ENSP00000501281.1:n.*763-571_*763-570insA
ENST00000673990.1:n.776-571_776-570insA
ENST00000674019.1:c.162-571_162-570insA	ENSP00000501081.1:n.162-571_162-570insA
ENST00000674107.1:n.733-571_733-570insA
ENST00000674111.1:c.885-571_885-570insA	ENSP00000501162.1:n.885-571_885-570insA
ENST00000231790.6:c.885-571_885-570insA	ENSP00000231790.2:n.885-571_885-570insA
ENST00000413212.1:c.113+5195_113+5196insA
ENST00000435176.5:c.591-571_591-570insA	ENSP00000402564.1:n.591-571_591-570insA
ENST00000441265.5:c.162-571_162-570insA	ENSP00000398392.1:n.162-571_162-570insA
ENST00000447829.5:c.172-571_172-570insA
ENST00000455445.6:c.162-571_162-570insA	ENSP00000398272.2:n.162-571_162-570insA
ENST00000456676.6:c.860-571_860-570insA
ENST00000458009.5:c.225+2140_225+2141insA
ENST00000458205.6:c.162-571_162-570insA	ENSP00000402667.2:n.162-571_162-570insA
ENST00000536378.5:c.162-571_162-570insA	ENSP00000444286.2:n.162-571_162-570insA
ENST00000539477.5:c.162-571_162-570insA	ENSP00000443665.1:n.162-571_162-570insA
NM_000249.3:c.885-571_885-570insA , LRG_216t1:c.885-571_885-570insA	NP_000240.1:n.885-571_885-570insA
NM_001167617.1:c.591-571_591-570insA	NP_001161089.1:n.591-571_591-570insA
NM_001167618.1:c.162-571_162-570insA	NP_001161090.1:n.162-571_162-570insA
NM_001167619.1:c.162-571_162-570insA	NP_001161091.1:n.162-571_162-570insA
NM_001258271.1:c.885-571_885-570insA	NP_001245200.1:n.885-571_885-570insA
NM_001258273.1:c.162-571_162-570insA	NP_001245202.1:n.162-571_162-570insA
NM_001258274.1:c.162-571_162-570insA	NP_001245203.1:n.162-571_162-570insA
XM_005265161.1:c.678-571_678-570insA	XP_005265218.1:n.678-571_678-570insA
XM_005265163.1:c.162-571_162-570insA	XP_005265220.1:n.162-571_162-570insA
XM_005265164.1:c.162-571_162-570insA	XP_005265221.1:n.162-571_162-570insA
XM_005265166.1:c.-139-571_-139-570insA	XP_005265223.1:n.-139-571_-139-570insA
XM_011533727.1:c.-37+5195_-37+5196insA	XP_011532029.1:n.-37+5195_-37+5196insA
NM_001167617.2:c.591-571_591-570insA	NP_001161089.1:n.591-571_591-570insA
NM_001167618.2:c.162-571_162-570insA	NP_001161090.1:n.162-571_162-570insA
NM_001167619.2:c.162-571_162-570insA	NP_001161091.1:n.162-571_162-570insA
NM_001258274.2:c.162-571_162-570insA	NP_001245203.1:n.162-571_162-570insA
NM_001354615.1:c.162-571_162-570insA	NP_001341544.1:n.162-571_162-570insA
NM_001354616.1:c.162-571_162-570insA	NP_001341545.1:n.162-571_162-570insA
NM_001354617.1:c.162-571_162-570insA	NP_001341546.1:n.162-571_162-570insA
NM_001354618.1:c.162-571_162-570insA	NP_001341547.1:n.162-571_162-570insA
NM_001354619.1:c.162-571_162-570insA	NP_001341548.1:n.162-571_162-570insA
NM_001354620.1:c.591-571_591-570insA	NP_001341549.1:n.591-571_591-570insA
NM_001354621.1:c.-139-571_-139-570insA	NP_001341550.1:n.-139-571_-139-570insA
NM_001354622.1:c.-139-571_-139-570insA	NP_001341551.1:n.-139-571_-139-570insA
NM_001354623.1:c.-139-571_-139-570insA	NP_001341552.1:n.-139-571_-139-570insA
NM_001354624.1:c.-37+5195_-37+5196insA	NP_001341553.1:n.-37+5195_-37+5196insA
NM_001354625.1:c.-37+5195_-37+5196insA	NP_001341554.1:n.-37+5195_-37+5196insA
NM_001354626.1:c.-37+5195_-37+5196insA	NP_001341555.1:n.-37+5195_-37+5196insA
NM_001354627.1:c.-37+5195_-37+5196insA	NP_001341556.1:n.-37+5195_-37+5196insA
NM_001354628.1:c.885-571_885-570insA	NP_001341557.1:n.885-571_885-570insA
NM_001354629.1:c.786-571_786-570insA	NP_001341558.1:n.786-571_786-570insA
NM_001354630.1:c.885-571_885-570insA	NP_001341559.1:n.885-571_885-570insA
XM_005265161.2:c.678-571_678-570insA	XP_005265218.1:n.678-571_678-570insA
XM_017006450.2:c.-139-571_-139-570insA	XP_016861939.1:n.-139-571_-139-570insA
NM_000249.4:c.885-571_885-570insA MANE Select	NP_000240.1:n.885-571_885-570insA
NM_001167617.3:c.591-571_591-570insA	NP_001161089.1:n.591-571_591-570insA
NM_001167618.3:c.162-571_162-570insA	NP_001161090.1:n.162-571_162-570insA
NM_001167619.3:c.162-571_162-570insA	NP_001161091.1:n.162-571_162-570insA
NM_001258271.2:c.885-571_885-570insA	NP_001245200.1:n.885-571_885-570insA
NM_001258273.2:c.162-571_162-570insA	NP_001245202.1:n.162-571_162-570insA
NM_001258274.3:c.162-571_162-570insA	NP_001245203.1:n.162-571_162-570insA
NM_001354615.2:c.162-571_162-570insA	NP_001341544.1:n.162-571_162-570insA
NM_001354616.2:c.162-571_162-570insA	NP_001341545.1:n.162-571_162-570insA
NM_001354617.2:c.162-571_162-570insA	NP_001341546.1:n.162-571_162-570insA
NM_001354618.2:c.162-571_162-570insA	NP_001341547.1:n.162-571_162-570insA
NM_001354619.2:c.162-571_162-570insA	NP_001341548.1:n.162-571_162-570insA
NM_001354620.2:c.591-571_591-570insA	NP_001341549.1:n.591-571_591-570insA
NM_001354621.2:c.-139-571_-139-570insA	NP_001341550.1:n.-139-571_-139-570insA
NM_001354622.2:c.-139-571_-139-570insA	NP_001341551.1:n.-139-571_-139-570insA
NM_001354623.2:c.-139-571_-139-570insA	NP_001341552.1:n.-139-571_-139-570insA
NM_001354624.2:c.-37+5195_-37+5196insA	NP_001341553.1:n.-37+5195_-37+5196insA
NM_001354625.2:c.-37+5195_-37+5196insA	NP_001341554.1:n.-37+5195_-37+5196insA
NM_001354626.2:c.-37+5195_-37+5196insA	NP_001341555.1:n.-37+5195_-37+5196insA
NM_001354627.2:c.-37+5195_-37+5196insA	NP_001341556.1:n.-37+5195_-37+5196insA
NM_001354628.2:c.885-571_885-570insA	NP_001341557.1:n.885-571_885-570insA
NM_001354629.2:c.786-571_786-570insA	NP_001341558.1:n.786-571_786-570insA
NM_001354630.2:c.885-571_885-570insA	NP_001341559.1:n.885-571_885-570insA