Canonical Allele Identifier: CA916079911

Gene: MLH1

Linked Data

• ClinVar Variation Id: 850053
• ClinVar RCV Id: RCV001054139
• dbSNP Id: rs2080899985

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993619_36993629dup , CM000665.2:g.36993619_36993629dup	GRCh38
NC_000003.11:g.37035110_37035120dup , CM000665.1:g.37035110_37035120dup	GRCh37
NC_000003.10:g.37010114_37010124dup	NCBI36
NG_007109.2:g.5270_5280dup , LRG_216:g.5270_5280dup
NG_008418.1:g.4676_4686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.72_82dup	ENSP00000416476.2:p.Pro28LeufsTer12
ENST00000450420.6:c.72_82dup	ENSP00000393006.2:p.Pro28LeufsTer12
ENST00000456676.7:c.72_82dup	ENSP00000416687.3:p.Pro28LeufsTer12
ENST00000458009.6:c.72_82dup	ENSP00000411066.2:p.Pro28LeufsTer12
ENST00000616768.6:c.72_82dup	ENSP00000480669.3:p.Pro28LeufsTer12
ENST00000673673.2:c.72_82dup	ENSP00000500979.2:p.Pro28LeufsTer12
ENST00000231790.8:c.72_82dup MANE Select	ENSP00000231790.3:p.Pro28LeufsTer12
ENST00000432299.6:c.72_82dup	ENSP00000416783.1:p.Pro28LeufsTer12
ENST00000442249.6:n.87_97dup
ENST00000673673.1:c.25_35dup
ENST00000673713.1:n.103_113dup
ENST00000673715.1:c.72_82dup	ENSP00000501301.1:p.Pro28LeufsTer12
ENST00000673897.1:c.72_82dup	ENSP00000501109.1:p.Pro28LeufsTer12
ENST00000673899.1:c.72_82dup	ENSP00000501030.1:p.Pro28LeufsTer12
ENST00000673947.1:c.72_82dup	ENSP00000501304.1:p.Pro28LeufsTer12
ENST00000673972.1:c.72_82dup	ENSP00000501281.1:p.Pro28LeufsTer12
ENST00000674111.1:c.72_82dup	ENSP00000501162.1:p.Pro28LeufsTer12
ENST00000231790.6:c.72_82dup	ENSP00000231790.2:p.Pro28LeufsTer12
ENST00000432299.5:c.72_82dup	ENSP00000416783.1:p.Pro28LeufsTer12
ENST00000442249.5:c.72_82dup	ENSP00000387511.1:p.Pro28LeufsTer12
ENST00000454028.5:c.72_82dup	ENSP00000392649.1:p.Pro28LeufsTer12
ENST00000456676.6:c.47_57dup
ENST00000457004.5:c.72_82dup	ENSP00000407773.1:p.Pro28LeufsTer12
ENST00000536378.5:c.-561_-551dup	ENSP00000444286.2:n.-561_-551dup
NM_000249.3:c.72_82dup , LRG_216t1:c.72_82dup	NP_000240.1:p.Pro28LeufsTer12
NM_001258271.1:c.72_82dup	NP_001245200.1:p.Pro28LeufsTer12
NM_001258273.1:c.-561_-551dup	NP_001245202.1:n.-561_-551dup
XM_005265161.1:c.72_82dup	XP_005265218.1:p.Pro28LeufsTer12
XM_005265164.1:c.-647_-637dup	XP_005265221.1:n.-647_-637dup
NM_001167617.2:c.-445_-435dup	NP_001161089.1:n.-445_-435dup
NM_001167618.2:c.-874_-864dup	NP_001161090.1:n.-874_-864dup
NM_001167619.2:c.-787_-777dup	NP_001161091.1:n.-787_-777dup
NM_001258274.2:c.-1024_-1014dup	NP_001245203.1:n.-1024_-1014dup
NM_001354615.1:c.-555_-545dup	NP_001341544.1:n.-555_-545dup
NM_001354616.1:c.-555_-545dup	NP_001341545.1:n.-555_-545dup
NM_001354617.1:c.-647_-637dup	NP_001341546.1:n.-647_-637dup
NM_001354618.1:c.-879_-869dup	NP_001341547.1:n.-879_-869dup
NM_001354619.1:c.-1003_-993dup	NP_001341548.1:n.-1003_-993dup
NM_001354620.1:c.-213_-203dup	NP_001341549.1:n.-213_-203dup
NM_001354621.1:c.-972_-962dup	NP_001341550.1:n.-972_-962dup
NM_001354622.1:c.-1085_-1075dup	NP_001341551.1:n.-1085_-1075dup
NM_001354623.1:c.-994_-984dup	NP_001341552.1:n.-994_-984dup
NM_001354624.1:c.-755_-745dup	NP_001341553.1:n.-755_-745dup
NM_001354625.1:c.-653_-643dup	NP_001341554.1:n.-653_-643dup
NM_001354626.1:c.-750_-740dup	NP_001341555.1:n.-750_-740dup
NM_001354627.1:c.-982_-972dup	NP_001341556.1:n.-982_-972dup
NM_001354628.1:c.72_82dup	NP_001341557.1:p.Pro28LeufsTer12
NM_001354629.1:c.72_82dup	NP_001341558.1:p.Pro28LeufsTer12
NM_001354630.1:c.72_82dup	NP_001341559.1:p.Pro28LeufsTer12
XM_005265161.2:c.72_82dup	XP_005265218.1:p.Pro28LeufsTer12
XM_017006450.2:c.-740_-730dup	XP_016861939.1:n.-740_-730dup
NM_000249.4:c.72_82dup MANE Select	NP_000240.1:p.Pro28LeufsTer12
NM_001167617.3:c.-445_-435dup	NP_001161089.1:n.-445_-435dup
NM_001167618.3:c.-874_-864dup	NP_001161090.1:n.-874_-864dup
NM_001167619.3:c.-787_-777dup	NP_001161091.1:n.-787_-777dup
NM_001258271.2:c.72_82dup	NP_001245200.1:p.Pro28LeufsTer12
NM_001258273.2:c.-561_-551dup	NP_001245202.1:n.-561_-551dup
NM_001258274.3:c.-1024_-1014dup	NP_001245203.1:n.-1024_-1014dup
NM_001354615.2:c.-555_-545dup	NP_001341544.1:n.-555_-545dup
NM_001354616.2:c.-555_-545dup	NP_001341545.1:n.-555_-545dup
NM_001354617.2:c.-647_-637dup	NP_001341546.1:n.-647_-637dup
NM_001354618.2:c.-879_-869dup	NP_001341547.1:n.-879_-869dup
NM_001354619.2:c.-1003_-993dup	NP_001341548.1:n.-1003_-993dup
NM_001354620.2:c.-213_-203dup	NP_001341549.1:n.-213_-203dup
NM_001354621.2:c.-972_-962dup	NP_001341550.1:n.-972_-962dup
NM_001354622.2:c.-1085_-1075dup	NP_001341551.1:n.-1085_-1075dup
NM_001354623.2:c.-994_-984dup	NP_001341552.1:n.-994_-984dup
NM_001354624.2:c.-755_-745dup	NP_001341553.1:n.-755_-745dup
NM_001354625.2:c.-653_-643dup	NP_001341554.1:n.-653_-643dup
NM_001354626.2:c.-750_-740dup	NP_001341555.1:n.-750_-740dup
NM_001354627.2:c.-982_-972dup	NP_001341556.1:n.-982_-972dup
NM_001354628.2:c.72_82dup	NP_001341557.1:p.Pro28LeufsTer12
NM_001354629.2:c.72_82dup	NP_001341558.1:p.Pro28LeufsTer12
NM_001354630.2:c.72_82dup	NP_001341559.1:p.Pro28LeufsTer12