Canonical Allele Identifier: CA006723

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89873
• ClinVar RCV Id: RCV000075349 ; RCV002399448
• dbSNP Id: rs63750309
• MyVariant Identifiers: chr3:g.37089026_37089027del (hg19) ; chr3:g.37047535_37047536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047535_37047536del , CM000665.2:g.37047535_37047536del	GRCh38
NC_000003.11:g.37089026_37089027del , CM000665.1:g.37089026_37089027del	GRCh37
NC_000003.10:g.37064030_37064031del	NCBI36
NG_007109.2:g.59186_59187del , LRG_216:g.59186_59187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-2951_1668-2950del	ENSP00000416476.2:n.1668-2951_1668-2950del
ENST00000429117.6:c.1454_1455del	ENSP00000407019.2:p.Phe485Ter
ENST00000450420.6:c.1559-2951_1559-2950del	ENSP00000393006.2:n.1559-2951_1559-2950del
ENST00000456676.7:c.1748_1749del	ENSP00000416687.3:p.Phe583Ter
ENST00000492474.6:c.1025_1026del	ENSP00000518393.1:p.Phe342Ter
ENST00000616768.6:c.1748_1749del	ENSP00000480669.3:p.Phe583Ter
ENST00000673673.2:c.1732-982_1732-981del	ENSP00000500979.2:n.1732-982_1732-981del
ENST00000231790.8:c.1748_1749del MANE Select	ENSP00000231790.3:p.Phe583Ter
ENST00000413212.2:c.*666_*667del	ENSP00000400844.2:n.*666_*667del
ENST00000432299.6:c.*1580_*1581del	ENSP00000416783.1:n.*1580_*1581del
ENST00000441265.6:c.961_962del	ENSP00000398392.2:p.Leu321AspfsTer?
ENST00000447829.6:c.*859_*860del	ENSP00000399329.2:n.*859_*860del
ENST00000539477.6:c.1025_1026del	ENSP00000443665.1:p.Phe342Ter
ENST00000616768.5:c.785_786del	ENSP00000480669.2:p.Phe262Ter
ENST00000673673.1:c.1685-982_1685-981del
ENST00000673715.1:c.1748_1749del	ENSP00000501301.1:p.Phe583Ter
ENST00000673741.1:n.782_783del
ENST00000673889.1:n.1130_1131del
ENST00000673897.1:c.*1540_*1541del	ENSP00000501109.1:n.*1540_*1541del
ENST00000673899.1:c.1016_1017del	ENSP00000501030.1:p.Phe339Ter
ENST00000673947.1:c.*1888_*1889del	ENSP00000501304.1:n.*1888_*1889del
ENST00000673972.1:c.*1626_*1627del	ENSP00000501281.1:n.*1626_*1627del
ENST00000673990.1:n.1639_1640del
ENST00000674019.1:c.1025_1026del	ENSP00000501081.1:p.Phe342Ter
ENST00000674111.1:c.1684_1685del	ENSP00000501162.1:p.Leu562AspfsTer?
ENST00000674125.1:n.459_460del
ENST00000231790.6:c.1748_1749del	ENSP00000231790.2:p.Phe583Ter
ENST00000413740.1:c.291-2951_291-2950del	ENSP00000416476.1:n.291-2951_291-2950del
ENST00000435176.5:c.1454_1455del	ENSP00000402564.1:p.Phe485Ter
ENST00000450420.5:c.182-2951_182-2950del	ENSP00000393006.1:n.182-2951_182-2950del
ENST00000455445.6:c.1025_1026del	ENSP00000398272.2:p.Phe342Ter
ENST00000456676.6:c.1723_1724del
ENST00000458205.6:c.1025_1026del	ENSP00000402667.2:p.Phe342Ter
ENST00000536378.5:c.1025_1026del	ENSP00000444286.2:p.Phe342Ter
ENST00000539477.5:c.1025_1026del	ENSP00000443665.1:p.Phe342Ter
ENST00000616768.4:c.516_517del
NM_000249.3:c.1748_1749del , LRG_216t1:c.1748_1749del	NP_000240.1:p.Phe583Ter
NM_001167617.1:c.1454_1455del	NP_001161089.1:p.Phe485Ter
NM_001167618.1:c.1025_1026del	NP_001161090.1:p.Phe342Ter
NM_001167619.1:c.1025_1026del	NP_001161091.1:p.Phe342Ter
NM_001258271.1:c.1748_1749del	NP_001245200.1:p.Phe583Ter
NM_001258273.1:c.1025_1026del	NP_001245202.1:p.Phe342Ter
NM_001258274.1:c.1025_1026del	NP_001245203.1:p.Phe342Ter
XM_005265161.1:c.1541_1542del	XP_005265218.1:p.Phe514Ter
XM_005265163.1:c.1025_1026del	XP_005265220.1:p.Phe342Ter
XM_005265164.1:c.1025_1026del	XP_005265221.1:p.Phe342Ter
XM_005265166.1:c.725_726del	XP_005265223.1:p.Phe242Ter
XM_011533727.1:c.674_675del	XP_011532029.1:p.Phe225Ter
NM_001167617.2:c.1454_1455del	NP_001161089.1:p.Phe485Ter
NM_001167618.2:c.1025_1026del	NP_001161090.1:p.Phe342Ter
NM_001167619.2:c.1025_1026del	NP_001161091.1:p.Phe342Ter
NM_001258274.2:c.1025_1026del	NP_001245203.1:p.Phe342Ter
NM_001354615.1:c.1025_1026del	NP_001341544.1:p.Phe342Ter
NM_001354616.1:c.1025_1026del	NP_001341545.1:p.Phe342Ter
NM_001354617.1:c.1025_1026del	NP_001341546.1:p.Phe342Ter
NM_001354618.1:c.1025_1026del	NP_001341547.1:p.Phe342Ter
NM_001354619.1:c.1025_1026del	NP_001341548.1:p.Phe342Ter
NM_001354620.1:c.1454_1455del	NP_001341549.1:p.Phe485Ter
NM_001354621.1:c.725_726del	NP_001341550.1:p.Phe242Ter
NM_001354622.1:c.725_726del	NP_001341551.1:p.Phe242Ter
NM_001354623.1:c.725_726del	NP_001341552.1:p.Phe242Ter
NM_001354624.1:c.674_675del	NP_001341553.1:p.Phe225Ter
NM_001354625.1:c.674_675del	NP_001341554.1:p.Phe225Ter
NM_001354626.1:c.674_675del	NP_001341555.1:p.Phe225Ter
NM_001354627.1:c.674_675del	NP_001341556.1:p.Phe225Ter
NM_001354628.1:c.1748_1749del	NP_001341557.1:p.Phe583Ter
NM_001354629.1:c.1649_1650del	NP_001341558.1:p.Phe550Ter
NM_001354630.1:c.1732-982_1732-981del	NP_001341559.1:n.1732-982_1732-981del
XM_005265161.2:c.1541_1542del	XP_005265218.1:p.Phe514Ter
XM_017006450.2:c.725_726del	XP_016861939.1:p.Phe242Ter
NM_000249.4:c.1748_1749del MANE Select	NP_000240.1:p.Phe583Ter
NM_001167617.3:c.1454_1455del	NP_001161089.1:p.Phe485Ter
NM_001167618.3:c.1025_1026del	NP_001161090.1:p.Phe342Ter
NM_001167619.3:c.1025_1026del	NP_001161091.1:p.Phe342Ter
NM_001258271.2:c.1748_1749del	NP_001245200.1:p.Phe583Ter
NM_001258273.2:c.1025_1026del	NP_001245202.1:p.Phe342Ter
NM_001258274.3:c.1025_1026del	NP_001245203.1:p.Phe342Ter
NM_001354615.2:c.1025_1026del	NP_001341544.1:p.Phe342Ter
NM_001354616.2:c.1025_1026del	NP_001341545.1:p.Phe342Ter
NM_001354617.2:c.1025_1026del	NP_001341546.1:p.Phe342Ter
NM_001354618.2:c.1025_1026del	NP_001341547.1:p.Phe342Ter
NM_001354619.2:c.1025_1026del	NP_001341548.1:p.Phe342Ter
NM_001354620.2:c.1454_1455del	NP_001341549.1:p.Phe485Ter
NM_001354621.2:c.725_726del	NP_001341550.1:p.Phe242Ter
NM_001354622.2:c.725_726del	NP_001341551.1:p.Phe242Ter
NM_001354623.2:c.725_726del	NP_001341552.1:p.Phe242Ter
NM_001354624.2:c.674_675del	NP_001341553.1:p.Phe225Ter
NM_001354625.2:c.674_675del	NP_001341554.1:p.Phe225Ter
NM_001354626.2:c.674_675del	NP_001341555.1:p.Phe225Ter
NM_001354627.2:c.674_675del	NP_001341556.1:p.Phe225Ter
NM_001354628.2:c.1748_1749del	NP_001341557.1:p.Phe583Ter
NM_001354629.2:c.1649_1650del	NP_001341558.1:p.Phe550Ter
NM_001354630.2:c.1732-982_1732-981del	NP_001341559.1:n.1732-982_1732-981del