Canonical Allele Identifier: CA542223392

Gene: MLH1

Linked Data

• dbSNP Id: rs1293555560
• gnomAD v2: 3-37089251-AAT-A
• gnomAD v3: 3-37047760-AAT-A
• gnomAD v4: 3-37047760-AAT-A
• MyVariant Identifiers: chr3:g.37089252_37089253del (hg19) ; chr3:g.37047761_37047762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047761_37047762del , CM000665.2:g.37047761_37047762del	GRCh38
NC_000003.11:g.37089252_37089253del , CM000665.1:g.37089252_37089253del	GRCh37
NC_000003.10:g.37064256_37064257del	NCBI36
NG_007109.2:g.59412_59413del , LRG_216:g.59412_59413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-2725_1668-2724del	ENSP00000416476.2:n.1668-2725_1668-2724del
ENST00000429117.6:c.1602+78_1602+79del	ENSP00000407019.2:n.1602+78_1602+79del
ENST00000450420.6:c.1559-2725_1559-2724del	ENSP00000393006.2:n.1559-2725_1559-2724del
ENST00000456676.7:c.1896+78_1896+79del	ENSP00000416687.3:n.1896+78_1896+79del
ENST00000492474.6:c.1173+78_1173+79del	ENSP00000518393.1:n.1173+78_1173+79del
ENST00000616768.6:c.1896+78_1896+79del	ENSP00000480669.3:n.1896+78_1896+79del
ENST00000673673.2:c.1732-756_1732-755del	ENSP00000500979.2:n.1732-756_1732-755del
ENST00000231790.8:c.1896+78_1896+79del MANE Select	ENSP00000231790.3:n.1896+78_1896+79del
ENST00000413212.2:c.*814+78_*814+79del	ENSP00000400844.2:n.*814+78_*814+79del
ENST00000432299.6:c.*1728+78_*1728+79del	ENSP00000416783.1:n.*1728+78_*1728+79del
ENST00000447829.6:c.*1007+78_*1007+79del	ENSP00000399329.2:n.*1007+78_*1007+79del
ENST00000539477.6:c.1173+78_1173+79del	ENSP00000443665.1:n.1173+78_1173+79del
ENST00000616768.5:c.933+78_933+79del	ENSP00000480669.2:n.933+78_933+79del
ENST00000673673.1:c.1685-756_1685-755del
ENST00000673741.1:n.930+78_930+79del
ENST00000673889.1:n.1278+78_1278+79del
ENST00000673897.1:c.*1688+78_*1688+79del	ENSP00000501109.1:n.*1688+78_*1688+79del
ENST00000673899.1:c.1164+78_1164+79del	ENSP00000501030.1:n.1164+78_1164+79del
ENST00000673947.1:c.*2036+78_*2036+79del	ENSP00000501304.1:n.*2036+78_*2036+79del
ENST00000673972.1:c.*1774+78_*1774+79del	ENSP00000501281.1:n.*1774+78_*1774+79del
ENST00000674019.1:c.1173+78_1173+79del	ENSP00000501081.1:n.1173+78_1173+79del
ENST00000674111.1:c.*125+78_*125+79del	ENSP00000501162.1:n.*125+78_*125+79del
ENST00000674125.1:n.607+78_607+79del
ENST00000231790.6:c.1896+78_1896+79del	ENSP00000231790.2:n.1896+78_1896+79del
ENST00000413740.1:c.291-2725_291-2724del	ENSP00000416476.1:n.291-2725_291-2724del
ENST00000435176.5:c.1602+78_1602+79del	ENSP00000402564.1:n.1602+78_1602+79del
ENST00000450420.5:c.182-2725_182-2724del	ENSP00000393006.1:n.182-2725_182-2724del
ENST00000455445.6:c.1173+78_1173+79del	ENSP00000398272.2:n.1173+78_1173+79del
ENST00000456676.6:c.1871+78_1871+79del
ENST00000458205.6:c.1173+78_1173+79del	ENSP00000402667.2:n.1173+78_1173+79del
ENST00000536378.5:c.1173+78_1173+79del	ENSP00000444286.2:n.1173+78_1173+79del
ENST00000539477.5:c.1173+78_1173+79del	ENSP00000443665.1:n.1173+78_1173+79del
NM_000249.3:c.1896+78_1896+79del , LRG_216t1:c.1896+78_1896+79del	NP_000240.1:n.1896+78_1896+79del
NM_001167617.1:c.1602+78_1602+79del	NP_001161089.1:n.1602+78_1602+79del
NM_001167618.1:c.1173+78_1173+79del	NP_001161090.1:n.1173+78_1173+79del
NM_001167619.1:c.1173+78_1173+79del	NP_001161091.1:n.1173+78_1173+79del
NM_001258271.1:c.1896+78_1896+79del	NP_001245200.1:n.1896+78_1896+79del
NM_001258273.1:c.1173+78_1173+79del	NP_001245202.1:n.1173+78_1173+79del
NM_001258274.1:c.1173+78_1173+79del	NP_001245203.1:n.1173+78_1173+79del
XM_005265161.1:c.1689+78_1689+79del	XP_005265218.1:n.1689+78_1689+79del
XM_005265163.1:c.1173+78_1173+79del	XP_005265220.1:n.1173+78_1173+79del
XM_005265164.1:c.1173+78_1173+79del	XP_005265221.1:n.1173+78_1173+79del
XM_005265166.1:c.873+78_873+79del	XP_005265223.1:n.873+78_873+79del
XM_011533727.1:c.822+78_822+79del	XP_011532029.1:n.822+78_822+79del
NM_001167617.2:c.1602+78_1602+79del	NP_001161089.1:n.1602+78_1602+79del
NM_001167618.2:c.1173+78_1173+79del	NP_001161090.1:n.1173+78_1173+79del
NM_001167619.2:c.1173+78_1173+79del	NP_001161091.1:n.1173+78_1173+79del
NM_001258274.2:c.1173+78_1173+79del	NP_001245203.1:n.1173+78_1173+79del
NM_001354615.1:c.1173+78_1173+79del	NP_001341544.1:n.1173+78_1173+79del
NM_001354616.1:c.1173+78_1173+79del	NP_001341545.1:n.1173+78_1173+79del
NM_001354617.1:c.1173+78_1173+79del	NP_001341546.1:n.1173+78_1173+79del
NM_001354618.1:c.1173+78_1173+79del	NP_001341547.1:n.1173+78_1173+79del
NM_001354619.1:c.1173+78_1173+79del	NP_001341548.1:n.1173+78_1173+79del
NM_001354620.1:c.1602+78_1602+79del	NP_001341549.1:n.1602+78_1602+79del
NM_001354621.1:c.873+78_873+79del	NP_001341550.1:n.873+78_873+79del
NM_001354622.1:c.873+78_873+79del	NP_001341551.1:n.873+78_873+79del
NM_001354623.1:c.873+78_873+79del	NP_001341552.1:n.873+78_873+79del
NM_001354624.1:c.822+78_822+79del	NP_001341553.1:n.822+78_822+79del
NM_001354625.1:c.822+78_822+79del	NP_001341554.1:n.822+78_822+79del
NM_001354626.1:c.822+78_822+79del	NP_001341555.1:n.822+78_822+79del
NM_001354627.1:c.822+78_822+79del	NP_001341556.1:n.822+78_822+79del
NM_001354628.1:c.1896+78_1896+79del	NP_001341557.1:n.1896+78_1896+79del
NM_001354629.1:c.1797+78_1797+79del	NP_001341558.1:n.1797+78_1797+79del
NM_001354630.1:c.1732-756_1732-755del	NP_001341559.1:n.1732-756_1732-755del
XM_005265161.2:c.1689+78_1689+79del	XP_005265218.1:n.1689+78_1689+79del
XM_017006450.2:c.873+78_873+79del	XP_016861939.1:n.873+78_873+79del
NM_000249.4:c.1896+78_1896+79del MANE Select	NP_000240.1:n.1896+78_1896+79del
NM_001167617.3:c.1602+78_1602+79del	NP_001161089.1:n.1602+78_1602+79del
NM_001167618.3:c.1173+78_1173+79del	NP_001161090.1:n.1173+78_1173+79del
NM_001167619.3:c.1173+78_1173+79del	NP_001161091.1:n.1173+78_1173+79del
NM_001258271.2:c.1896+78_1896+79del	NP_001245200.1:n.1896+78_1896+79del
NM_001258273.2:c.1173+78_1173+79del	NP_001245202.1:n.1173+78_1173+79del
NM_001258274.3:c.1173+78_1173+79del	NP_001245203.1:n.1173+78_1173+79del
NM_001354615.2:c.1173+78_1173+79del	NP_001341544.1:n.1173+78_1173+79del
NM_001354616.2:c.1173+78_1173+79del	NP_001341545.1:n.1173+78_1173+79del
NM_001354617.2:c.1173+78_1173+79del	NP_001341546.1:n.1173+78_1173+79del
NM_001354618.2:c.1173+78_1173+79del	NP_001341547.1:n.1173+78_1173+79del
NM_001354619.2:c.1173+78_1173+79del	NP_001341548.1:n.1173+78_1173+79del
NM_001354620.2:c.1602+78_1602+79del	NP_001341549.1:n.1602+78_1602+79del
NM_001354621.2:c.873+78_873+79del	NP_001341550.1:n.873+78_873+79del
NM_001354622.2:c.873+78_873+79del	NP_001341551.1:n.873+78_873+79del
NM_001354623.2:c.873+78_873+79del	NP_001341552.1:n.873+78_873+79del
NM_001354624.2:c.822+78_822+79del	NP_001341553.1:n.822+78_822+79del
NM_001354625.2:c.822+78_822+79del	NP_001341554.1:n.822+78_822+79del
NM_001354626.2:c.822+78_822+79del	NP_001341555.1:n.822+78_822+79del
NM_001354627.2:c.822+78_822+79del	NP_001341556.1:n.822+78_822+79del
NM_001354628.2:c.1896+78_1896+79del	NP_001341557.1:n.1896+78_1896+79del
NM_001354629.2:c.1797+78_1797+79del	NP_001341558.1:n.1797+78_1797+79del
NM_001354630.2:c.1732-756_1732-755del	NP_001341559.1:n.1732-756_1732-755del