Canonical Allele Identifier: CA008906

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90072
• ClinVar RCV Id: RCV000075558 ; RCV002426630 ; RCV003451112
• dbSNP Id: rs63750971
• MyVariant Identifiers: chr3:g.37092027_37092028del (hg19) ; chr3:g.37050536_37050537del (hg38)
• PubMed: PMID:14517962

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050536_37050537del , CM000665.2:g.37050536_37050537del	GRCh38
NC_000003.11:g.37092027_37092028del , CM000665.1:g.37092027_37092028del	GRCh37
NC_000003.10:g.37067031_37067032del	NCBI36
NG_007109.2:g.62187_62188del , LRG_216:g.62187_62188del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1718_1719del	ENSP00000416476.2:p.Thr573IlefsTer?
ENST00000429117.6:c.1860_1861del	ENSP00000407019.2:p.Ile621CysfsTer3
ENST00000450420.6:c.*46_*47del	ENSP00000393006.2:n.*46_*47del
ENST00000456676.7:c.1947_1948del	ENSP00000416687.3:p.Ile650CysfsTer3
ENST00000492474.6:c.1431_1432del	ENSP00000518393.1:p.Ile478CysfsTer3
ENST00000616768.6:c.2061_2062del	ENSP00000480669.3:p.Ile688CysfsTer3
ENST00000673673.2:c.1989_1990del	ENSP00000500979.2:p.Ile664CysfsTer3
ENST00000231790.8:c.2154_2155del MANE Select	ENSP00000231790.3:p.Ile719CysfsTer3
ENST00000413212.2:c.*1072_*1073del	ENSP00000400844.2:n.*1072_*1073del
ENST00000432299.6:c.*1986_*1987del	ENSP00000416783.1:n.*1986_*1987del
ENST00000447829.6:c.*1265_*1266del	ENSP00000399329.2:n.*1265_*1266del
ENST00000539477.6:c.1431_1432del	ENSP00000443665.1:p.Ile478CysfsTer3
ENST00000616768.5:c.1098_1099del	ENSP00000480669.2:p.Ile367CysfsTer3
ENST00000673673.1:c.1942_1943del
ENST00000673741.1:n.1188_1189del
ENST00000673889.1:n.1536_1537del
ENST00000673897.1:c.*1946_*1947del	ENSP00000501109.1:n.*1946_*1947del
ENST00000673899.1:c.1422_1423del	ENSP00000501030.1:p.Ile475CysfsTer3
ENST00000673947.1:c.*2294_*2295del	ENSP00000501304.1:n.*2294_*2295del
ENST00000673972.1:c.*2032_*2033del	ENSP00000501281.1:n.*2032_*2033del
ENST00000674019.1:c.1431_1432del	ENSP00000501081.1:p.Ile478CysfsTer3
ENST00000674111.1:c.*383_*384del	ENSP00000501162.1:n.*383_*384del
ENST00000674125.1:n.865_866del
ENST00000231790.6:c.2154_2155del	ENSP00000231790.2:p.Ile719CysfsTer3
ENST00000413740.1:c.341_342del	ENSP00000416476.1:p.Thr114=
ENST00000435176.5:c.1860_1861del	ENSP00000402564.1:p.Ile621CysfsTer3
ENST00000450420.5:c.232_233del	ENSP00000393006.1:n.232_233del
ENST00000455445.6:c.1431_1432del	ENSP00000398272.2:p.Ile478CysfsTer3
ENST00000456676.6:c.1922_1923del
ENST00000458205.6:c.1431_1432del	ENSP00000402667.2:p.Ile478CysfsTer3
ENST00000536378.5:c.1431_1432del	ENSP00000444286.2:p.Ile478CysfsTer3
ENST00000539477.5:c.1431_1432del	ENSP00000443665.1:p.Ile478CysfsTer3
NM_000249.3:c.2154_2155del , LRG_216t1:c.2154_2155del	NP_000240.1:p.Ile719CysfsTer3
NM_001167617.1:c.1860_1861del	NP_001161089.1:p.Ile621CysfsTer3
NM_001167618.1:c.1431_1432del	NP_001161090.1:p.Ile478CysfsTer3
NM_001167619.1:c.1431_1432del	NP_001161091.1:p.Ile478CysfsTer3
NM_001258271.1:c.1947_1948del	NP_001245200.1:p.Ile650CysfsTer3
NM_001258273.1:c.1431_1432del	NP_001245202.1:p.Ile478CysfsTer3
NM_001258274.1:c.1431_1432del	NP_001245203.1:p.Ile478CysfsTer3
XM_005265161.1:c.1947_1948del	XP_005265218.1:p.Ile650CysfsTer3
XM_005265163.1:c.1431_1432del	XP_005265220.1:p.Ile478CysfsTer3
XM_005265164.1:c.1431_1432del	XP_005265221.1:p.Ile478CysfsTer3
XM_005265166.1:c.1131_1132del	XP_005265223.1:p.Ile378CysfsTer3
XM_011533727.1:c.1080_1081del	XP_011532029.1:p.Ile361CysfsTer3
NM_001167617.2:c.1860_1861del	NP_001161089.1:p.Ile621CysfsTer3
NM_001167618.2:c.1431_1432del	NP_001161090.1:p.Ile478CysfsTer3
NM_001167619.2:c.1431_1432del	NP_001161091.1:p.Ile478CysfsTer3
NM_001258274.2:c.1431_1432del	NP_001245203.1:p.Ile478CysfsTer3
NM_001354615.1:c.1431_1432del	NP_001341544.1:p.Ile478CysfsTer3
NM_001354616.1:c.1431_1432del	NP_001341545.1:p.Ile478CysfsTer3
NM_001354617.1:c.1431_1432del	NP_001341546.1:p.Ile478CysfsTer3
NM_001354618.1:c.1431_1432del	NP_001341547.1:p.Ile478CysfsTer3
NM_001354619.1:c.1431_1432del	NP_001341548.1:p.Ile478CysfsTer3
NM_001354620.1:c.1860_1861del	NP_001341549.1:p.Ile621CysfsTer3
NM_001354621.1:c.1131_1132del	NP_001341550.1:p.Ile378CysfsTer3
NM_001354622.1:c.1131_1132del	NP_001341551.1:p.Ile378CysfsTer3
NM_001354623.1:c.1131_1132del	NP_001341552.1:p.Ile378CysfsTer3
NM_001354624.1:c.1080_1081del	NP_001341553.1:p.Ile361CysfsTer3
NM_001354625.1:c.1080_1081del	NP_001341554.1:p.Ile361CysfsTer3
NM_001354626.1:c.1080_1081del	NP_001341555.1:p.Ile361CysfsTer3
NM_001354627.1:c.1080_1081del	NP_001341556.1:p.Ile361CysfsTer3
NM_001354628.1:c.2061_2062del	NP_001341557.1:p.Ile688CysfsTer3
NM_001354629.1:c.2055_2056del	NP_001341558.1:p.Ile686CysfsTer3
NM_001354630.1:c.1989_1990del	NP_001341559.1:p.Ile664CysfsTer3
XM_005265161.2:c.1947_1948del	XP_005265218.1:p.Ile650CysfsTer3
XM_017006450.2:c.1131_1132del	XP_016861939.1:p.Ile378CysfsTer3
NM_000249.4:c.2154_2155del MANE Select	NP_000240.1:p.Ile719CysfsTer3
NM_001167617.3:c.1860_1861del	NP_001161089.1:p.Ile621CysfsTer3
NM_001167618.3:c.1431_1432del	NP_001161090.1:p.Ile478CysfsTer3
NM_001167619.3:c.1431_1432del	NP_001161091.1:p.Ile478CysfsTer3
NM_001258271.2:c.1947_1948del	NP_001245200.1:p.Ile650CysfsTer3
NM_001258273.2:c.1431_1432del	NP_001245202.1:p.Ile478CysfsTer3
NM_001258274.3:c.1431_1432del	NP_001245203.1:p.Ile478CysfsTer3
NM_001354615.2:c.1431_1432del	NP_001341544.1:p.Ile478CysfsTer3
NM_001354616.2:c.1431_1432del	NP_001341545.1:p.Ile478CysfsTer3
NM_001354617.2:c.1431_1432del	NP_001341546.1:p.Ile478CysfsTer3
NM_001354618.2:c.1431_1432del	NP_001341547.1:p.Ile478CysfsTer3
NM_001354619.2:c.1431_1432del	NP_001341548.1:p.Ile478CysfsTer3
NM_001354620.2:c.1860_1861del	NP_001341549.1:p.Ile621CysfsTer3
NM_001354621.2:c.1131_1132del	NP_001341550.1:p.Ile378CysfsTer3
NM_001354622.2:c.1131_1132del	NP_001341551.1:p.Ile378CysfsTer3
NM_001354623.2:c.1131_1132del	NP_001341552.1:p.Ile378CysfsTer3
NM_001354624.2:c.1080_1081del	NP_001341553.1:p.Ile361CysfsTer3
NM_001354625.2:c.1080_1081del	NP_001341554.1:p.Ile361CysfsTer3
NM_001354626.2:c.1080_1081del	NP_001341555.1:p.Ile361CysfsTer3
NM_001354627.2:c.1080_1081del	NP_001341556.1:p.Ile361CysfsTer3
NM_001354628.2:c.2061_2062del	NP_001341557.1:p.Ile688CysfsTer3
NM_001354629.2:c.2055_2056del	NP_001341558.1:p.Ile686CysfsTer3
NM_001354630.2:c.1989_1990del	NP_001341559.1:p.Ile664CysfsTer3