Canonical Allele Identifier: CA2573136249

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1477170
• ClinVar RCV Id: RCV001971457
• dbSNP Id: rs2148526779

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050653_37050656dup , CM000665.2:g.37050653_37050656dup	GRCh38
NC_000003.11:g.37092144_37092147dup , CM000665.1:g.37092144_37092147dup	GRCh37
NC_000003.10:g.37067148_37067151dup	NCBI36
NG_007109.2:g.62304_62307dup , LRG_216:g.62304_62307dup
NG_053016.1:g.131164_131167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1835_*3dup	ENSP00000416476.2:n.1835_*3dup
ENST00000429117.6:c.1977_*3dup	ENSP00000407019.2:n.1977_*3dup
ENST00000456676.7:c.2064_*3dup	ENSP00000416687.3:n.2064_*3dup
ENST00000492474.6:c.1548_*3dup	ENSP00000518393.1:n.1548_*3dup
ENST00000616768.6:c.2178_*3dup	ENSP00000480669.3:n.2178_*3dup
ENST00000673673.2:c.2106_*3dup	ENSP00000500979.2:n.2106_*3dup
ENST00000231790.8:c.2271_*3dup MANE Select	ENSP00000231790.3:n.2271_*3dup
ENST00000413212.2:c.*1189_*1192dup	ENSP00000400844.2:n.*1189_*1192dup
ENST00000432299.6:c.*2103_*2106dup	ENSP00000416783.1:n.*2103_*2106dup
ENST00000447829.6:c.*1382_*1385dup	ENSP00000399329.2:n.*1382_*1385dup
ENST00000539477.6:c.1548_*3dup	ENSP00000443665.1:n.1548_*3dup
ENST00000616768.5:c.1215_1218dup	ENSP00000480669.2:n.1215_1218dup
ENST00000673673.1:c.2059_2062dup
ENST00000673741.1:n.1305_1308dup
ENST00000673889.1:n.1653_1656dup
ENST00000673897.1:c.*2063_*2066dup	ENSP00000501109.1:n.*2063_*2066dup
ENST00000673899.1:c.1539_*3dup	ENSP00000501030.1:n.1539_*3dup
ENST00000673947.1:c.*2411_*2414dup	ENSP00000501304.1:n.*2411_*2414dup
ENST00000673972.1:c.*2149_*2152dup	ENSP00000501281.1:n.*2149_*2152dup
ENST00000674019.1:c.1548_*3dup	ENSP00000501081.1:n.1548_*3dup
ENST00000674111.1:c.*500_*503dup	ENSP00000501162.1:n.*500_*503dup
ENST00000674125.1:n.982_985dup
ENST00000231790.6:c.2271_*3dup	ENSP00000231790.2:n.2271_*3dup
ENST00000435176.5:c.1977_*3dup	ENSP00000402564.1:n.1977_*3dup
ENST00000455445.6:c.1548_*3dup	ENSP00000398272.2:n.1548_*3dup
ENST00000456676.6:c.2039_2042dup
ENST00000458205.6:c.1548_*3dup	ENSP00000402667.2:n.1548_*3dup
ENST00000536378.5:c.1548_*3dup	ENSP00000444286.2:n.1548_*3dup
ENST00000539477.5:c.1548_*3dup	ENSP00000443665.1:n.1548_*3dup
NM_000249.3:c.2271_*3dup , LRG_216t1:c.2271_*3dup	NP_000240.1:n.2271_*3dup
NM_001167617.1:c.1977_*3dup	NP_001161089.1:n.1977_*3dup
NM_001167618.1:c.1548_*3dup	NP_001161090.1:n.1548_*3dup
NM_001167619.1:c.1548_*3dup	NP_001161091.1:n.1548_*3dup
NM_001258271.1:c.2064_*3dup	NP_001245200.1:n.2064_*3dup
NM_001258273.1:c.1548_*3dup	NP_001245202.1:n.1548_*3dup
NM_001258274.1:c.1548_*3dup	NP_001245203.1:n.1548_*3dup
XM_005265161.1:c.2064_*3dup	XP_005265218.1:n.2064_*3dup
XM_005265163.1:c.1548_*3dup	XP_005265220.1:n.1548_*3dup
XM_005265164.1:c.1548_*3dup	XP_005265221.1:n.1548_*3dup
XM_005265166.1:c.1248_*3dup	XP_005265223.1:n.1248_*3dup
XM_011533727.1:c.1197_*3dup	XP_011532029.1:n.1197_*3dup
NM_001167617.2:c.1977_*3dup	NP_001161089.1:n.1977_*3dup
NM_001167618.2:c.1548_*3dup	NP_001161090.1:n.1548_*3dup
NM_001167619.2:c.1548_*3dup	NP_001161091.1:n.1548_*3dup
NM_001258274.2:c.1548_*3dup	NP_001245203.1:n.1548_*3dup
NM_001354615.1:c.1548_*3dup	NP_001341544.1:n.1548_*3dup
NM_001354616.1:c.1548_*3dup	NP_001341545.1:n.1548_*3dup
NM_001354617.1:c.1548_*3dup	NP_001341546.1:n.1548_*3dup
NM_001354618.1:c.1548_*3dup	NP_001341547.1:n.1548_*3dup
NM_001354619.1:c.1548_*3dup	NP_001341548.1:n.1548_*3dup
NM_001354620.1:c.1977_*3dup	NP_001341549.1:n.1977_*3dup
NM_001354621.1:c.1248_*3dup	NP_001341550.1:n.1248_*3dup
NM_001354622.1:c.1248_*3dup	NP_001341551.1:n.1248_*3dup
NM_001354623.1:c.1248_*3dup	NP_001341552.1:n.1248_*3dup
NM_001354624.1:c.1197_*3dup	NP_001341553.1:n.1197_*3dup
NM_001354625.1:c.1197_*3dup	NP_001341554.1:n.1197_*3dup
NM_001354626.1:c.1197_*3dup	NP_001341555.1:n.1197_*3dup
NM_001354627.1:c.1197_*3dup	NP_001341556.1:n.1197_*3dup
NM_001354628.1:c.2178_*3dup	NP_001341557.1:n.2178_*3dup
NM_001354629.1:c.2172_*3dup	NP_001341558.1:n.2172_*3dup
NM_001354630.1:c.2106_*3dup	NP_001341559.1:n.2106_*3dup
XM_005265161.2:c.2064_*3dup	XP_005265218.1:n.2064_*3dup
XM_017006450.2:c.1248_*3dup	XP_016861939.1:n.1248_*3dup
NM_000249.4:c.2271_*3dup MANE Select	NP_000240.1:n.2271_*3dup
NM_001167617.3:c.1977_*3dup	NP_001161089.1:n.1977_*3dup
NM_001167618.3:c.1548_*3dup	NP_001161090.1:n.1548_*3dup
NM_001167619.3:c.1548_*3dup	NP_001161091.1:n.1548_*3dup
NM_001258271.2:c.2064_*3dup	NP_001245200.1:n.2064_*3dup
NM_001258273.2:c.1548_*3dup	NP_001245202.1:n.1548_*3dup
NM_001258274.3:c.1548_*3dup	NP_001245203.1:n.1548_*3dup
NM_001354615.2:c.1548_*3dup	NP_001341544.1:n.1548_*3dup
NM_001354616.2:c.1548_*3dup	NP_001341545.1:n.1548_*3dup
NM_001354617.2:c.1548_*3dup	NP_001341546.1:n.1548_*3dup
NM_001354618.2:c.1548_*3dup	NP_001341547.1:n.1548_*3dup
NM_001354619.2:c.1548_*3dup	NP_001341548.1:n.1548_*3dup
NM_001354620.2:c.1977_*3dup	NP_001341549.1:n.1977_*3dup
NM_001354621.2:c.1248_*3dup	NP_001341550.1:n.1248_*3dup
NM_001354622.2:c.1248_*3dup	NP_001341551.1:n.1248_*3dup
NM_001354623.2:c.1248_*3dup	NP_001341552.1:n.1248_*3dup
NM_001354624.2:c.1197_*3dup	NP_001341553.1:n.1197_*3dup
NM_001354625.2:c.1197_*3dup	NP_001341554.1:n.1197_*3dup
NM_001354626.2:c.1197_*3dup	NP_001341555.1:n.1197_*3dup
NM_001354627.2:c.1197_*3dup	NP_001341556.1:n.1197_*3dup
NM_001354628.2:c.2178_*3dup	NP_001341557.1:n.2178_*3dup
NM_001354629.2:c.2172_*3dup	NP_001341558.1:n.2172_*3dup
NM_001354630.2:c.2106_*3dup	NP_001341559.1:n.2106_*3dup