Canonical Allele Identifier: CA2665010253

Gene: MLH1

Linked Data

• gnomAD v4: 3-37050705-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050707_37050708del , CM000665.2:g.37050707_37050708del	GRCh38
NC_000003.11:g.37092198_37092199del , CM000665.1:g.37092198_37092199del	GRCh37
NC_000003.10:g.37067202_37067203del	NCBI36
NG_007109.2:g.62358_62359del , LRG_216:g.62358_62359del
NG_053016.1:g.131111_131112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.*54_*55del	ENSP00000416476.2:n.*54_*55del
ENST00000429117.6:c.*54_*55del	ENSP00000407019.2:n.*54_*55del
ENST00000456676.7:c.*54_*55del	ENSP00000416687.3:n.*54_*55del
ENST00000492474.6:c.*54_*55del	ENSP00000518393.1:n.*54_*55del
ENST00000616768.6:c.*54_*55del	ENSP00000480669.3:n.*54_*55del
ENST00000673673.2:c.*54_*55del	ENSP00000500979.2:n.*54_*55del
ENST00000231790.8:c.*54_*55del MANE Select	ENSP00000231790.3:n.*54_*55del
ENST00000413212.2:c.*1243_*1244del	ENSP00000400844.2:n.*1243_*1244del
ENST00000432299.6:c.*2157_*2158del	ENSP00000416783.1:n.*2157_*2158del
ENST00000447829.6:c.*1436_*1437del	ENSP00000399329.2:n.*1436_*1437del
ENST00000539477.6:c.*54_*55del	ENSP00000443665.1:n.*54_*55del
ENST00000616768.5:c.1269_1270del	ENSP00000480669.2:n.1269_1270del
ENST00000673673.1:c.2113_2114del
ENST00000673741.1:n.1359_1360del
ENST00000673889.1:n.1707_1708del
ENST00000673897.1:c.*2117_*2118del	ENSP00000501109.1:n.*2117_*2118del
ENST00000673899.1:c.*54_*55del	ENSP00000501030.1:n.*54_*55del
ENST00000673947.1:c.*2465_*2466del	ENSP00000501304.1:n.*2465_*2466del
ENST00000673972.1:c.*2203_*2204del	ENSP00000501281.1:n.*2203_*2204del
ENST00000674019.1:c.*54_*55del	ENSP00000501081.1:n.*54_*55del
ENST00000674111.1:c.*554_*555del	ENSP00000501162.1:n.*554_*555del
ENST00000674125.1:n.1036_1037del
ENST00000231790.6:c.*54_*55del	ENSP00000231790.2:n.*54_*55del
ENST00000435176.5:c.*54_*55del	ENSP00000402564.1:n.*54_*55del
ENST00000456676.6:c.2093_2094del
ENST00000458205.6:c.*54_*55del	ENSP00000402667.2:n.*54_*55del
ENST00000536378.5:c.*54_*55del	ENSP00000444286.2:n.*54_*55del
ENST00000539477.5:c.*54_*55del	ENSP00000443665.1:n.*54_*55del
NM_000249.3:c.*54_*55del , LRG_216t1:c.*54_*55del	NP_000240.1:n.*54_*55del
NM_001167617.1:c.*54_*55del	NP_001161089.1:n.*54_*55del
NM_001167618.1:c.*54_*55del	NP_001161090.1:n.*54_*55del
NM_001167619.1:c.*54_*55del	NP_001161091.1:n.*54_*55del
NM_001258271.1:c.*54_*55del	NP_001245200.1:n.*54_*55del
NM_001258273.1:c.*54_*55del	NP_001245202.1:n.*54_*55del
NM_001258274.1:c.*54_*55del	NP_001245203.1:n.*54_*55del
XM_005265161.1:c.*54_*55del	XP_005265218.1:n.*54_*55del
XM_005265163.1:c.*54_*55del	XP_005265220.1:n.*54_*55del
XM_005265164.1:c.*54_*55del	XP_005265221.1:n.*54_*55del
XM_005265166.1:c.*54_*55del	XP_005265223.1:n.*54_*55del
XM_011533727.1:c.*54_*55del	XP_011532029.1:n.*54_*55del
NM_001167617.2:c.*54_*55del	NP_001161089.1:n.*54_*55del
NM_001167618.2:c.*54_*55del	NP_001161090.1:n.*54_*55del
NM_001167619.2:c.*54_*55del	NP_001161091.1:n.*54_*55del
NM_001258274.2:c.*54_*55del	NP_001245203.1:n.*54_*55del
NM_001354615.1:c.*54_*55del	NP_001341544.1:n.*54_*55del
NM_001354616.1:c.*54_*55del	NP_001341545.1:n.*54_*55del
NM_001354617.1:c.*54_*55del	NP_001341546.1:n.*54_*55del
NM_001354618.1:c.*54_*55del	NP_001341547.1:n.*54_*55del
NM_001354619.1:c.*54_*55del	NP_001341548.1:n.*54_*55del
NM_001354620.1:c.*54_*55del	NP_001341549.1:n.*54_*55del
NM_001354621.1:c.*54_*55del	NP_001341550.1:n.*54_*55del
NM_001354622.1:c.*54_*55del	NP_001341551.1:n.*54_*55del
NM_001354623.1:c.*54_*55del	NP_001341552.1:n.*54_*55del
NM_001354624.1:c.*54_*55del	NP_001341553.1:n.*54_*55del
NM_001354625.1:c.*54_*55del	NP_001341554.1:n.*54_*55del
NM_001354626.1:c.*54_*55del	NP_001341555.1:n.*54_*55del
NM_001354627.1:c.*54_*55del	NP_001341556.1:n.*54_*55del
NM_001354628.1:c.*54_*55del	NP_001341557.1:n.*54_*55del
NM_001354629.1:c.*54_*55del	NP_001341558.1:n.*54_*55del
NM_001354630.1:c.*54_*55del	NP_001341559.1:n.*54_*55del
XM_005265161.2:c.*54_*55del	XP_005265218.1:n.*54_*55del
XM_017006450.2:c.*54_*55del	XP_016861939.1:n.*54_*55del
NM_000249.4:c.*54_*55del MANE Select	NP_000240.1:n.*54_*55del
NM_001167617.3:c.*54_*55del	NP_001161089.1:n.*54_*55del
NM_001167618.3:c.*54_*55del	NP_001161090.1:n.*54_*55del
NM_001167619.3:c.*54_*55del	NP_001161091.1:n.*54_*55del
NM_001258271.2:c.*54_*55del	NP_001245200.1:n.*54_*55del
NM_001258273.2:c.*54_*55del	NP_001245202.1:n.*54_*55del
NM_001258274.3:c.*54_*55del	NP_001245203.1:n.*54_*55del
NM_001354615.2:c.*54_*55del	NP_001341544.1:n.*54_*55del
NM_001354616.2:c.*54_*55del	NP_001341545.1:n.*54_*55del
NM_001354617.2:c.*54_*55del	NP_001341546.1:n.*54_*55del
NM_001354618.2:c.*54_*55del	NP_001341547.1:n.*54_*55del
NM_001354619.2:c.*54_*55del	NP_001341548.1:n.*54_*55del
NM_001354620.2:c.*54_*55del	NP_001341549.1:n.*54_*55del
NM_001354621.2:c.*54_*55del	NP_001341550.1:n.*54_*55del
NM_001354622.2:c.*54_*55del	NP_001341551.1:n.*54_*55del
NM_001354623.2:c.*54_*55del	NP_001341552.1:n.*54_*55del
NM_001354624.2:c.*54_*55del	NP_001341553.1:n.*54_*55del
NM_001354625.2:c.*54_*55del	NP_001341554.1:n.*54_*55del
NM_001354626.2:c.*54_*55del	NP_001341555.1:n.*54_*55del
NM_001354627.2:c.*54_*55del	NP_001341556.1:n.*54_*55del
NM_001354628.2:c.*54_*55del	NP_001341557.1:n.*54_*55del
NM_001354629.2:c.*54_*55del	NP_001341558.1:n.*54_*55del
NM_001354630.2:c.*54_*55del	NP_001341559.1:n.*54_*55del