Canonical Allele Identifier: CA1357871282

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37006994_37006996delinsAAG , CM000665.2:g.37006994_37006996delinsAAG	GRCh38
NC_000003.11:g.37048485_37048487delinsAAG , CM000665.1:g.37048485_37048487delinsAAG	GRCh37
NC_000003.10:g.37023489_37023491delinsAAG	NCBI36
NG_007109.2:g.18645_18647delinsAAG , LRG_216:g.18645_18647delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.384_386delinsAAG	ENSP00000416476.2:p.Ala128=
ENST00000429117.6:c.90_92delinsAAG	ENSP00000407019.2:p.Ala30=
ENST00000450420.6:c.384_386delinsAAG	ENSP00000393006.2:p.Ala128=
ENST00000456676.7:c.384_386delinsAAG	ENSP00000416687.3:p.Ala128=
ENST00000458009.6:c.384_386delinsAAG	ENSP00000411066.2:p.Ala128=
ENST00000492474.6:c.-340_-338delinsAAG	ENSP00000518393.1:n.-340_-338delinsAAG
ENST00000616768.6:c.384_386delinsAAG	ENSP00000480669.3:p.Ala128=
ENST00000673673.2:c.384_386delinsAAG	ENSP00000500979.2:p.Ala128=
ENST00000231790.8:c.384_386delinsAAG MANE Select	ENSP00000231790.3:p.Ala128=
ENST00000413212.2:c.-340_-338delinsAAG	ENSP00000400844.2:n.-340_-338delinsAAG
ENST00000432299.6:c.*464_*466delinsAAG	ENSP00000416783.1:n.*464_*466delinsAAG
ENST00000441265.6:c.-340_-338delinsAAG	ENSP00000398392.2:n.-340_-338delinsAAG
ENST00000442249.6:n.399_401delinsAAG
ENST00000447829.6:c.21_23delinsAAG	ENSP00000399329.2:p.Ala7=
ENST00000539477.6:c.-248_-246delinsAAG	ENSP00000443665.1:n.-248_-246delinsAAG
ENST00000673673.1:c.337_339delinsAAG
ENST00000673713.1:n.415_417delinsAAG
ENST00000673715.1:c.384_386delinsAAG	ENSP00000501301.1:p.Ala128=
ENST00000673897.1:c.*176_*178delinsAAG	ENSP00000501109.1:n.*176_*178delinsAAG
ENST00000673899.1:c.384_386delinsAAG	ENSP00000501030.1:p.Ala128=
ENST00000673947.1:c.*524_*526delinsAAG	ENSP00000501304.1:n.*524_*526delinsAAG
ENST00000673972.1:c.*262_*264delinsAAG	ENSP00000501281.1:n.*262_*264delinsAAG
ENST00000673990.1:n.369_371delinsAAG
ENST00000674019.1:c.-340_-338delinsAAG	ENSP00000501081.1:n.-340_-338delinsAAG
ENST00000674107.1:n.326_328delinsAAG
ENST00000674111.1:c.384_386delinsAAG	ENSP00000501162.1:p.Ala128=
ENST00000231790.6:c.384_386delinsAAG	ENSP00000231790.2:p.Ala128=
ENST00000429117.5:c.90_92delinsAAG	ENSP00000407019.1:p.Ala30=
ENST00000432299.5:c.*464_*466delinsAAG	ENSP00000416783.1:n.*464_*466delinsAAG
ENST00000435176.5:c.90_92delinsAAG	ENSP00000402564.1:p.Ala30=
ENST00000441265.5:c.-248_-246delinsAAG	ENSP00000398392.1:n.-248_-246delinsAAG
ENST00000442249.5:c.*176_*178delinsAAG	ENSP00000387511.1:n.*176_*178delinsAAG
ENST00000454028.5:c.*257_*259delinsAAG	ENSP00000392649.1:n.*257_*259delinsAAG
ENST00000455445.6:c.-340_-338delinsAAG	ENSP00000398272.2:n.-340_-338delinsAAG
ENST00000456676.6:c.359_361delinsAAG
ENST00000457004.5:c.*163_*165delinsAAG	ENSP00000407773.1:n.*163_*165delinsAAG
ENST00000458205.6:c.-340_-338delinsAAG	ENSP00000402667.2:n.-340_-338delinsAAG
ENST00000466900.5:n.417_419delinsAAG
ENST00000485889.1:n.388_390delinsAAG
ENST00000492474.5:n.407_409delinsAAG
ENST00000536378.5:c.-340_-338delinsAAG	ENSP00000444286.2:n.-340_-338delinsAAG
ENST00000539477.5:c.-248_-246delinsAAG	ENSP00000443665.1:n.-248_-246delinsAAG
NM_000249.3:c.384_386delinsAAG , LRG_216t1:c.384_386delinsAAG	NP_000240.1:p.Ala128=
NM_001167617.1:c.90_92delinsAAG	NP_001161089.1:p.Ala30=
NM_001167618.1:c.-340_-338delinsAAG	NP_001161090.1:n.-340_-338delinsAAG
NM_001167619.1:c.-248_-246delinsAAG	NP_001161091.1:n.-248_-246delinsAAG
NM_001258271.1:c.384_386delinsAAG	NP_001245200.1:p.Ala128=
NM_001258273.1:c.-340_-338delinsAAG	NP_001245202.1:n.-340_-338delinsAAG
NM_001258274.1:c.-340_-338delinsAAG	NP_001245203.1:n.-340_-338delinsAAG
XM_005265161.1:c.384_386delinsAAG	XP_005265218.1:p.Ala128=
XM_005265163.1:c.-340_-338delinsAAG	XP_005265220.1:n.-340_-338delinsAAG
XM_005265164.1:c.-340_-338delinsAAG	XP_005265221.1:n.-340_-338delinsAAG
XM_005265166.1:c.-546_-544delinsAAG	XP_005265223.1:n.-546_-544delinsAAG
XM_011533727.1:c.-443_-441delinsAAG	XP_011532029.1:n.-443_-441delinsAAG
NM_001167617.2:c.90_92delinsAAG	NP_001161089.1:p.Ala30=
NM_001167618.2:c.-340_-338delinsAAG	NP_001161090.1:n.-340_-338delinsAAG
NM_001167619.2:c.-248_-246delinsAAG	NP_001161091.1:n.-248_-246delinsAAG
NM_001258274.2:c.-340_-338delinsAAG	NP_001245203.1:n.-340_-338delinsAAG
NM_001354615.1:c.-248_-246delinsAAG	NP_001341544.1:n.-248_-246delinsAAG
NM_001354616.1:c.-248_-246delinsAAG	NP_001341545.1:n.-248_-246delinsAAG
NM_001354617.1:c.-340_-338delinsAAG	NP_001341546.1:n.-340_-338delinsAAG
NM_001354618.1:c.-340_-338delinsAAG	NP_001341547.1:n.-340_-338delinsAAG
NM_001354619.1:c.-340_-338delinsAAG	NP_001341548.1:n.-340_-338delinsAAG
NM_001354620.1:c.90_92delinsAAG	NP_001341549.1:p.Ala30=
NM_001354621.1:c.-433_-431delinsAAG	NP_001341550.1:n.-433_-431delinsAAG
NM_001354622.1:c.-546_-544delinsAAG	NP_001341551.1:n.-546_-544delinsAAG
NM_001354623.1:c.-546_-544delinsAAG	NP_001341552.1:n.-546_-544delinsAAG
NM_001354624.1:c.-443_-441delinsAAG	NP_001341553.1:n.-443_-441delinsAAG
NM_001354625.1:c.-351_-349delinsAAG	NP_001341554.1:n.-351_-349delinsAAG
NM_001354626.1:c.-443_-441delinsAAG	NP_001341555.1:n.-443_-441delinsAAG
NM_001354627.1:c.-443_-441delinsAAG	NP_001341556.1:n.-443_-441delinsAAG
NM_001354628.1:c.384_386delinsAAG	NP_001341557.1:p.Ala128=
NM_001354629.1:c.285_287delinsAAG	NP_001341558.1:p.Ala95=
NM_001354630.1:c.384_386delinsAAG	NP_001341559.1:p.Ala128=
XM_005265161.2:c.384_386delinsAAG	XP_005265218.1:p.Ala128=
XM_017006450.2:c.-433_-431delinsAAG	XP_016861939.1:n.-433_-431delinsAAG
NM_000249.4:c.384_386delinsAAG MANE Select	NP_000240.1:p.Ala128=
NM_001167617.3:c.90_92delinsAAG	NP_001161089.1:p.Ala30=
NM_001167618.3:c.-340_-338delinsAAG	NP_001161090.1:n.-340_-338delinsAAG
NM_001167619.3:c.-248_-246delinsAAG	NP_001161091.1:n.-248_-246delinsAAG
NM_001258271.2:c.384_386delinsAAG	NP_001245200.1:p.Ala128=
NM_001258273.2:c.-340_-338delinsAAG	NP_001245202.1:n.-340_-338delinsAAG
NM_001258274.3:c.-340_-338delinsAAG	NP_001245203.1:n.-340_-338delinsAAG
NM_001354615.2:c.-248_-246delinsAAG	NP_001341544.1:n.-248_-246delinsAAG
NM_001354616.2:c.-248_-246delinsAAG	NP_001341545.1:n.-248_-246delinsAAG
NM_001354617.2:c.-340_-338delinsAAG	NP_001341546.1:n.-340_-338delinsAAG
NM_001354618.2:c.-340_-338delinsAAG	NP_001341547.1:n.-340_-338delinsAAG
NM_001354619.2:c.-340_-338delinsAAG	NP_001341548.1:n.-340_-338delinsAAG
NM_001354620.2:c.90_92delinsAAG	NP_001341549.1:p.Ala30=
NM_001354621.2:c.-433_-431delinsAAG	NP_001341550.1:n.-433_-431delinsAAG
NM_001354622.2:c.-546_-544delinsAAG	NP_001341551.1:n.-546_-544delinsAAG
NM_001354623.2:c.-546_-544delinsAAG	NP_001341552.1:n.-546_-544delinsAAG
NM_001354624.2:c.-443_-441delinsAAG	NP_001341553.1:n.-443_-441delinsAAG
NM_001354625.2:c.-351_-349delinsAAG	NP_001341554.1:n.-351_-349delinsAAG
NM_001354626.2:c.-443_-441delinsAAG	NP_001341555.1:n.-443_-441delinsAAG
NM_001354627.2:c.-443_-441delinsAAG	NP_001341556.1:n.-443_-441delinsAAG
NM_001354628.2:c.384_386delinsAAG	NP_001341557.1:p.Ala128=
NM_001354629.2:c.285_287delinsAAG	NP_001341558.1:p.Ala95=
NM_001354630.2:c.384_386delinsAAG	NP_001341559.1:p.Ala128=