Canonical Allele Identifier: CA006862

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89886
• ClinVar RCV Id: RCV000075362 ; RCV000202011 ; RCV000572736 ; RCV000694036 ; RCV001250014 ; RCV001199947 ; RCV003451066 ; RCV003407452
• dbSNP Id: rs63749868
• MyVariant Identifiers: chr3:g.37089050_37089053del (hg19) ; chr3:g.37089047_37089050del (hg19) ; chr3:g.37047559_37047562del (hg38) ; chr3:g.37047556_37047559del (hg38)
• PubMed: PMID:8872463 ; PMID:12362848 ; PMID:12810663 ; PMID:17312306 ; PMID:26248088

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047559_37047562del , CM000665.2:g.37047559_37047562del	GRCh38
NC_000003.11:g.37089050_37089053del , CM000665.1:g.37089050_37089053del	GRCh37
NC_000003.10:g.37064054_37064057del	NCBI36
NG_007109.2:g.59210_59213del , LRG_216:g.59210_59213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-2927_1668-2924del	ENSP00000416476.2:n.1668-2927_1668-2924del
ENST00000429117.6:c.1478_1481del	ENSP00000407019.2:p.Asp493ValfsTer24
ENST00000450420.6:c.1559-2927_1559-2924del	ENSP00000393006.2:n.1559-2927_1559-2924del
ENST00000456676.7:c.1772_1775del	ENSP00000416687.3:p.Asp591ValfsTer24
ENST00000492474.6:c.1049_1052del	ENSP00000518393.1:p.Asp350ValfsTer24
ENST00000616768.6:c.1772_1775del	ENSP00000480669.3:p.Asp591ValfsTer24
ENST00000673673.2:c.1732-958_1732-955del	ENSP00000500979.2:n.1732-958_1732-955del
ENST00000231790.8:c.1772_1775del MANE Select	ENSP00000231790.3:p.Asp591ValfsTer24
ENST00000413212.2:c.*690_*693del	ENSP00000400844.2:n.*690_*693del
ENST00000432299.6:c.*1604_*1607del	ENSP00000416783.1:n.*1604_*1607del
ENST00000441265.6:c.*1_*4del	ENSP00000398392.2:n.*1_*4del
ENST00000447829.6:c.*883_*886del	ENSP00000399329.2:n.*883_*886del
ENST00000539477.6:c.1049_1052del	ENSP00000443665.1:p.Asp350ValfsTer24
ENST00000616768.5:c.809_812del	ENSP00000480669.2:p.Asp270ValfsTer24
ENST00000673673.1:c.1685-958_1685-955del
ENST00000673715.1:c.1772_1775del	ENSP00000501301.1:p.Asp591ValfsTer24
ENST00000673741.1:n.806_809del
ENST00000673889.1:n.1154_1157del
ENST00000673897.1:c.*1564_*1567del	ENSP00000501109.1:n.*1564_*1567del
ENST00000673899.1:c.1040_1043del	ENSP00000501030.1:p.Asp347ValfsTer24
ENST00000673947.1:c.*1912_*1915del	ENSP00000501304.1:n.*1912_*1915del
ENST00000673972.1:c.*1650_*1653del	ENSP00000501281.1:n.*1650_*1653del
ENST00000673990.1:n.1663_1666del
ENST00000674019.1:c.1049_1052del	ENSP00000501081.1:p.Asp350ValfsTer24
ENST00000674111.1:c.*1_*4del	ENSP00000501162.1:n.*1_*4del
ENST00000674125.1:n.483_486del
ENST00000231790.6:c.1772_1775del	ENSP00000231790.2:p.Asp591ValfsTer24
ENST00000413740.1:c.291-2927_291-2924del	ENSP00000416476.1:n.291-2927_291-2924del
ENST00000435176.5:c.1478_1481del	ENSP00000402564.1:p.Asp493ValfsTer24
ENST00000450420.5:c.182-2927_182-2924del	ENSP00000393006.1:n.182-2927_182-2924del
ENST00000455445.6:c.1049_1052del	ENSP00000398272.2:p.Asp350ValfsTer24
ENST00000456676.6:c.1747_1750del
ENST00000458205.6:c.1049_1052del	ENSP00000402667.2:p.Asp350ValfsTer24
ENST00000536378.5:c.1049_1052del	ENSP00000444286.2:p.Asp350ValfsTer24
ENST00000539477.5:c.1049_1052del	ENSP00000443665.1:p.Asp350ValfsTer24
ENST00000616768.4:c.540_543del
NM_000249.3:c.1772_1775del , LRG_216t1:c.1772_1775del	NP_000240.1:p.Asp591ValfsTer24
NM_001167617.1:c.1478_1481del	NP_001161089.1:p.Asp493ValfsTer24
NM_001167618.1:c.1049_1052del	NP_001161090.1:p.Asp350ValfsTer24
NM_001167619.1:c.1049_1052del	NP_001161091.1:p.Asp350ValfsTer24
NM_001258271.1:c.1772_1775del	NP_001245200.1:p.Asp591ValfsTer24
NM_001258273.1:c.1049_1052del	NP_001245202.1:p.Asp350ValfsTer24
NM_001258274.1:c.1049_1052del	NP_001245203.1:p.Asp350ValfsTer24
XM_005265161.1:c.1565_1568del	XP_005265218.1:p.Asp522ValfsTer24
XM_005265163.1:c.1049_1052del	XP_005265220.1:p.Asp350ValfsTer24
XM_005265164.1:c.1049_1052del	XP_005265221.1:p.Asp350ValfsTer24
XM_005265166.1:c.749_752del	XP_005265223.1:p.Asp250ValfsTer24
XM_011533727.1:c.698_701del	XP_011532029.1:p.Asp233ValfsTer24
NM_001167617.2:c.1478_1481del	NP_001161089.1:p.Asp493ValfsTer24
NM_001167618.2:c.1049_1052del	NP_001161090.1:p.Asp350ValfsTer24
NM_001167619.2:c.1049_1052del	NP_001161091.1:p.Asp350ValfsTer24
NM_001258274.2:c.1049_1052del	NP_001245203.1:p.Asp350ValfsTer24
NM_001354615.1:c.1049_1052del	NP_001341544.1:p.Asp350ValfsTer24
NM_001354616.1:c.1049_1052del	NP_001341545.1:p.Asp350ValfsTer24
NM_001354617.1:c.1049_1052del	NP_001341546.1:p.Asp350ValfsTer24
NM_001354618.1:c.1049_1052del	NP_001341547.1:p.Asp350ValfsTer24
NM_001354619.1:c.1049_1052del	NP_001341548.1:p.Asp350ValfsTer24
NM_001354620.1:c.1478_1481del	NP_001341549.1:p.Asp493ValfsTer24
NM_001354621.1:c.749_752del	NP_001341550.1:p.Asp250ValfsTer24
NM_001354622.1:c.749_752del	NP_001341551.1:p.Asp250ValfsTer24
NM_001354623.1:c.749_752del	NP_001341552.1:p.Asp250ValfsTer24
NM_001354624.1:c.698_701del	NP_001341553.1:p.Asp233ValfsTer24
NM_001354625.1:c.698_701del	NP_001341554.1:p.Asp233ValfsTer24
NM_001354626.1:c.698_701del	NP_001341555.1:p.Asp233ValfsTer24
NM_001354627.1:c.698_701del	NP_001341556.1:p.Asp233ValfsTer24
NM_001354628.1:c.1772_1775del	NP_001341557.1:p.Asp591ValfsTer24
NM_001354629.1:c.1673_1676del	NP_001341558.1:p.Asp558ValfsTer24
NM_001354630.1:c.1732-958_1732-955del	NP_001341559.1:n.1732-958_1732-955del
XM_005265161.2:c.1565_1568del	XP_005265218.1:p.Asp522ValfsTer24
XM_017006450.2:c.749_752del	XP_016861939.1:p.Asp250ValfsTer24
NM_000249.4:c.1772_1775del MANE Select	NP_000240.1:p.Asp591ValfsTer24
NM_001167617.3:c.1478_1481del	NP_001161089.1:p.Asp493ValfsTer24
NM_001167618.3:c.1049_1052del	NP_001161090.1:p.Asp350ValfsTer24
NM_001167619.3:c.1049_1052del	NP_001161091.1:p.Asp350ValfsTer24
NM_001258271.2:c.1772_1775del	NP_001245200.1:p.Asp591ValfsTer24
NM_001258273.2:c.1049_1052del	NP_001245202.1:p.Asp350ValfsTer24
NM_001258274.3:c.1049_1052del	NP_001245203.1:p.Asp350ValfsTer24
NM_001354615.2:c.1049_1052del	NP_001341544.1:p.Asp350ValfsTer24
NM_001354616.2:c.1049_1052del	NP_001341545.1:p.Asp350ValfsTer24
NM_001354617.2:c.1049_1052del	NP_001341546.1:p.Asp350ValfsTer24
NM_001354618.2:c.1049_1052del	NP_001341547.1:p.Asp350ValfsTer24
NM_001354619.2:c.1049_1052del	NP_001341548.1:p.Asp350ValfsTer24
NM_001354620.2:c.1478_1481del	NP_001341549.1:p.Asp493ValfsTer24
NM_001354621.2:c.749_752del	NP_001341550.1:p.Asp250ValfsTer24
NM_001354622.2:c.749_752del	NP_001341551.1:p.Asp250ValfsTer24
NM_001354623.2:c.749_752del	NP_001341552.1:p.Asp250ValfsTer24
NM_001354624.2:c.698_701del	NP_001341553.1:p.Asp233ValfsTer24
NM_001354625.2:c.698_701del	NP_001341554.1:p.Asp233ValfsTer24
NM_001354626.2:c.698_701del	NP_001341555.1:p.Asp233ValfsTer24
NM_001354627.2:c.698_701del	NP_001341556.1:p.Asp233ValfsTer24
NM_001354628.2:c.1772_1775del	NP_001341557.1:p.Asp591ValfsTer24
NM_001354629.2:c.1673_1676del	NP_001341558.1:p.Asp558ValfsTer24
NM_001354630.2:c.1732-958_1732-955del	NP_001341559.1:n.1732-958_1732-955del