Canonical Allele Identifier: CA2577545418

Gene: MLH1

Linked Data

• gnomAD v4: 3-37048463-T-TTTAAACTATG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37048464_37048473dup , CM000665.2:g.37048464_37048473dup	GRCh38
NC_000003.11:g.37089955_37089964dup , CM000665.1:g.37089955_37089964dup	GRCh37
NC_000003.10:g.37064959_37064968dup	NCBI36
NG_007109.2:g.60115_60124dup , LRG_216:g.60115_60124dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1668-2022_1668-2013dup	ENSP00000416476.2:n.1668-2022_1668-2013dup
ENST00000429117.6:c.1603-53_1603-44dup	ENSP00000407019.2:n.1603-53_1603-44dup
ENST00000450420.6:c.1559-2022_1559-2013dup	ENSP00000393006.2:n.1559-2022_1559-2013dup
ENST00000456676.7:c.1896+781_1896+790dup	ENSP00000416687.3:n.1896+781_1896+790dup
ENST00000492474.6:c.1174-53_1174-44dup	ENSP00000518393.1:n.1174-53_1174-44dup
ENST00000616768.6:c.1897-440_1897-431dup	ENSP00000480669.3:n.1897-440_1897-431dup
ENST00000673673.2:c.1732-53_1732-44dup	ENSP00000500979.2:n.1732-53_1732-44dup
ENST00000231790.8:c.1897-53_1897-44dup MANE Select	ENSP00000231790.3:n.1897-53_1897-44dup
ENST00000413212.2:c.*815-53_*815-44dup	ENSP00000400844.2:n.*815-53_*815-44dup
ENST00000432299.6:c.*1729-53_*1729-44dup	ENSP00000416783.1:n.*1729-53_*1729-44dup
ENST00000447829.6:c.*1008-53_*1008-44dup	ENSP00000399329.2:n.*1008-53_*1008-44dup
ENST00000539477.6:c.1174-53_1174-44dup	ENSP00000443665.1:n.1174-53_1174-44dup
ENST00000616768.5:c.934-440_934-431dup	ENSP00000480669.2:n.934-440_934-431dup
ENST00000673673.1:c.1685-53_1685-44dup
ENST00000673741.1:n.931-53_931-44dup
ENST00000673889.1:n.1279-53_1279-44dup
ENST00000673897.1:c.*1689-53_*1689-44dup	ENSP00000501109.1:n.*1689-53_*1689-44dup
ENST00000673899.1:c.1165-53_1165-44dup	ENSP00000501030.1:n.1165-53_1165-44dup
ENST00000673947.1:c.*2037-53_*2037-44dup	ENSP00000501304.1:n.*2037-53_*2037-44dup
ENST00000673972.1:c.*1775-53_*1775-44dup	ENSP00000501281.1:n.*1775-53_*1775-44dup
ENST00000674019.1:c.1174-53_1174-44dup	ENSP00000501081.1:n.1174-53_1174-44dup
ENST00000674111.1:c.*126-53_*126-44dup	ENSP00000501162.1:n.*126-53_*126-44dup
ENST00000674125.1:n.608-53_608-44dup
ENST00000231790.6:c.1897-53_1897-44dup	ENSP00000231790.2:n.1897-53_1897-44dup
ENST00000413740.1:c.291-2022_291-2013dup	ENSP00000416476.1:n.291-2022_291-2013dup
ENST00000435176.5:c.1603-53_1603-44dup	ENSP00000402564.1:n.1603-53_1603-44dup
ENST00000450420.5:c.182-2022_182-2013dup	ENSP00000393006.1:n.182-2022_182-2013dup
ENST00000455445.6:c.1174-53_1174-44dup	ENSP00000398272.2:n.1174-53_1174-44dup
ENST00000456676.6:c.1871+781_1871+790dup
ENST00000458205.6:c.1174-53_1174-44dup	ENSP00000402667.2:n.1174-53_1174-44dup
ENST00000536378.5:c.1174-53_1174-44dup	ENSP00000444286.2:n.1174-53_1174-44dup
ENST00000539477.5:c.1174-53_1174-44dup	ENSP00000443665.1:n.1174-53_1174-44dup
NM_000249.3:c.1897-53_1897-44dup , LRG_216t1:c.1897-53_1897-44dup	NP_000240.1:n.1897-53_1897-44dup
NM_001167617.1:c.1603-53_1603-44dup	NP_001161089.1:n.1603-53_1603-44dup
NM_001167618.1:c.1174-53_1174-44dup	NP_001161090.1:n.1174-53_1174-44dup
NM_001167619.1:c.1174-53_1174-44dup	NP_001161091.1:n.1174-53_1174-44dup
NM_001258271.1:c.1896+781_1896+790dup	NP_001245200.1:n.1896+781_1896+790dup
NM_001258273.1:c.1174-53_1174-44dup	NP_001245202.1:n.1174-53_1174-44dup
NM_001258274.1:c.1174-53_1174-44dup	NP_001245203.1:n.1174-53_1174-44dup
XM_005265161.1:c.1690-53_1690-44dup	XP_005265218.1:n.1690-53_1690-44dup
XM_005265163.1:c.1174-53_1174-44dup	XP_005265220.1:n.1174-53_1174-44dup
XM_005265164.1:c.1174-53_1174-44dup	XP_005265221.1:n.1174-53_1174-44dup
XM_005265166.1:c.874-53_874-44dup	XP_005265223.1:n.874-53_874-44dup
XM_011533727.1:c.823-53_823-44dup	XP_011532029.1:n.823-53_823-44dup
NM_001167617.2:c.1603-53_1603-44dup	NP_001161089.1:n.1603-53_1603-44dup
NM_001167618.2:c.1174-53_1174-44dup	NP_001161090.1:n.1174-53_1174-44dup
NM_001167619.2:c.1174-53_1174-44dup	NP_001161091.1:n.1174-53_1174-44dup
NM_001258274.2:c.1174-53_1174-44dup	NP_001245203.1:n.1174-53_1174-44dup
NM_001354615.1:c.1174-53_1174-44dup	NP_001341544.1:n.1174-53_1174-44dup
NM_001354616.1:c.1174-53_1174-44dup	NP_001341545.1:n.1174-53_1174-44dup
NM_001354617.1:c.1174-53_1174-44dup	NP_001341546.1:n.1174-53_1174-44dup
NM_001354618.1:c.1174-53_1174-44dup	NP_001341547.1:n.1174-53_1174-44dup
NM_001354619.1:c.1174-53_1174-44dup	NP_001341548.1:n.1174-53_1174-44dup
NM_001354620.1:c.1603-53_1603-44dup	NP_001341549.1:n.1603-53_1603-44dup
NM_001354621.1:c.874-53_874-44dup	NP_001341550.1:n.874-53_874-44dup
NM_001354622.1:c.874-53_874-44dup	NP_001341551.1:n.874-53_874-44dup
NM_001354623.1:c.874-53_874-44dup	NP_001341552.1:n.874-53_874-44dup
NM_001354624.1:c.823-53_823-44dup	NP_001341553.1:n.823-53_823-44dup
NM_001354625.1:c.823-53_823-44dup	NP_001341554.1:n.823-53_823-44dup
NM_001354626.1:c.823-53_823-44dup	NP_001341555.1:n.823-53_823-44dup
NM_001354627.1:c.823-53_823-44dup	NP_001341556.1:n.823-53_823-44dup
NM_001354628.1:c.1897-440_1897-431dup	NP_001341557.1:n.1897-440_1897-431dup
NM_001354629.1:c.1798-53_1798-44dup	NP_001341558.1:n.1798-53_1798-44dup
NM_001354630.1:c.1732-53_1732-44dup	NP_001341559.1:n.1732-53_1732-44dup
XM_005265161.2:c.1690-53_1690-44dup	XP_005265218.1:n.1690-53_1690-44dup
XM_017006450.2:c.874-53_874-44dup	XP_016861939.1:n.874-53_874-44dup
NM_000249.4:c.1897-53_1897-44dup MANE Select	NP_000240.1:n.1897-53_1897-44dup
NM_001167617.3:c.1603-53_1603-44dup	NP_001161089.1:n.1603-53_1603-44dup
NM_001167618.3:c.1174-53_1174-44dup	NP_001161090.1:n.1174-53_1174-44dup
NM_001167619.3:c.1174-53_1174-44dup	NP_001161091.1:n.1174-53_1174-44dup
NM_001258271.2:c.1896+781_1896+790dup	NP_001245200.1:n.1896+781_1896+790dup
NM_001258273.2:c.1174-53_1174-44dup	NP_001245202.1:n.1174-53_1174-44dup
NM_001258274.3:c.1174-53_1174-44dup	NP_001245203.1:n.1174-53_1174-44dup
NM_001354615.2:c.1174-53_1174-44dup	NP_001341544.1:n.1174-53_1174-44dup
NM_001354616.2:c.1174-53_1174-44dup	NP_001341545.1:n.1174-53_1174-44dup
NM_001354617.2:c.1174-53_1174-44dup	NP_001341546.1:n.1174-53_1174-44dup
NM_001354618.2:c.1174-53_1174-44dup	NP_001341547.1:n.1174-53_1174-44dup
NM_001354619.2:c.1174-53_1174-44dup	NP_001341548.1:n.1174-53_1174-44dup
NM_001354620.2:c.1603-53_1603-44dup	NP_001341549.1:n.1603-53_1603-44dup
NM_001354621.2:c.874-53_874-44dup	NP_001341550.1:n.874-53_874-44dup
NM_001354622.2:c.874-53_874-44dup	NP_001341551.1:n.874-53_874-44dup
NM_001354623.2:c.874-53_874-44dup	NP_001341552.1:n.874-53_874-44dup
NM_001354624.2:c.823-53_823-44dup	NP_001341553.1:n.823-53_823-44dup
NM_001354625.2:c.823-53_823-44dup	NP_001341554.1:n.823-53_823-44dup
NM_001354626.2:c.823-53_823-44dup	NP_001341555.1:n.823-53_823-44dup
NM_001354627.2:c.823-53_823-44dup	NP_001341556.1:n.823-53_823-44dup
NM_001354628.2:c.1897-440_1897-431dup	NP_001341557.1:n.1897-440_1897-431dup
NM_001354629.2:c.1798-53_1798-44dup	NP_001341558.1:n.1798-53_1798-44dup
NM_001354630.2:c.1732-53_1732-44dup	NP_001341559.1:n.1732-53_1732-44dup