Canonical Allele Identifier: CA009150

Gene: MLH1

Linked Data

• dbSNP Id: rs587778991
• MyVariant Identifiers: chr3:g.37092097_37092105del (hg19) ; chr3:g.37050606_37050614del (hg38)
• PubMed: PMID:12624141

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050606_37050614del , CM000665.2:g.37050606_37050614del	GRCh38
NC_000003.11:g.37092097_37092105del , CM000665.1:g.37092097_37092105del	GRCh37
NC_000003.10:g.37067101_37067109del	NCBI36
NG_007109.2:g.62257_62265del , LRG_216:g.62257_62265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1788_1796del	ENSP00000416476.2:p.Cys596Ter
ENST00000429117.6:c.1930_1938del	ENSP00000407019.2:p.Gln644_Ala646del
ENST00000456676.7:c.2017_2025del	ENSP00000416687.3:p.Gln673_Ala675del
ENST00000492474.6:c.1501_1509del	ENSP00000518393.1:p.Gln501_Ala503del
ENST00000616768.6:c.2131_2139del	ENSP00000480669.3:p.Gln711_Ala713del
ENST00000673673.2:c.2059_2067del	ENSP00000500979.2:p.Gln687_Ala689del
ENST00000231790.8:c.2224_2232del MANE Select	ENSP00000231790.3:p.Gln742_Ala744del
ENST00000413212.2:c.*1142_*1150del	ENSP00000400844.2:n.*1142_*1150del
ENST00000432299.6:c.*2056_*2064del	ENSP00000416783.1:n.*2056_*2064del
ENST00000447829.6:c.*1335_*1343del	ENSP00000399329.2:n.*1335_*1343del
ENST00000539477.6:c.1501_1509del	ENSP00000443665.1:p.Gln501_Ala503del
ENST00000616768.5:c.1168_1176del	ENSP00000480669.2:p.Gln390_Ala392del
ENST00000673673.1:c.2012_2020del
ENST00000673741.1:n.1258_1266del
ENST00000673889.1:n.1606_1614del
ENST00000673897.1:c.*2016_*2024del	ENSP00000501109.1:n.*2016_*2024del
ENST00000673899.1:c.1492_1500del	ENSP00000501030.1:p.Gln498_Ala500del
ENST00000673947.1:c.*2364_*2372del	ENSP00000501304.1:n.*2364_*2372del
ENST00000673972.1:c.*2102_*2110del	ENSP00000501281.1:n.*2102_*2110del
ENST00000674019.1:c.1501_1509del	ENSP00000501081.1:p.Gln501_Ala503del
ENST00000674111.1:c.*453_*461del	ENSP00000501162.1:n.*453_*461del
ENST00000674125.1:n.935_943del
ENST00000231790.6:c.2224_2232del	ENSP00000231790.2:p.Gln742_Ala744del
ENST00000435176.5:c.1930_1938del	ENSP00000402564.1:p.Gln644_Ala646del
ENST00000455445.6:c.1501_1509del	ENSP00000398272.2:p.Gln501_Ala503del
ENST00000456676.6:c.1992_2000del
ENST00000458205.6:c.1501_1509del	ENSP00000402667.2:p.Gln501_Ala503del
ENST00000536378.5:c.1501_1509del	ENSP00000444286.2:p.Gln501_Ala503del
ENST00000539477.5:c.1501_1509del	ENSP00000443665.1:p.Gln501_Ala503del
NM_000249.3:c.2224_2232del , LRG_216t1:c.2224_2232del	NP_000240.1:p.Gln742_Ala744del
NM_001167617.1:c.1930_1938del	NP_001161089.1:p.Gln644_Ala646del
NM_001167618.1:c.1501_1509del	NP_001161090.1:p.Gln501_Ala503del
NM_001167619.1:c.1501_1509del	NP_001161091.1:p.Gln501_Ala503del
NM_001258271.1:c.2017_2025del	NP_001245200.1:p.Gln673_Ala675del
NM_001258273.1:c.1501_1509del	NP_001245202.1:p.Gln501_Ala503del
NM_001258274.1:c.1501_1509del	NP_001245203.1:p.Gln501_Ala503del
XM_005265161.1:c.2017_2025del	XP_005265218.1:p.Gln673_Ala675del
XM_005265163.1:c.1501_1509del	XP_005265220.1:p.Gln501_Ala503del
XM_005265164.1:c.1501_1509del	XP_005265221.1:p.Gln501_Ala503del
XM_005265166.1:c.1201_1209del	XP_005265223.1:p.Gln401_Ala403del
XM_011533727.1:c.1150_1158del	XP_011532029.1:p.Gln384_Ala386del
NM_001167617.2:c.1930_1938del	NP_001161089.1:p.Gln644_Ala646del
NM_001167618.2:c.1501_1509del	NP_001161090.1:p.Gln501_Ala503del
NM_001167619.2:c.1501_1509del	NP_001161091.1:p.Gln501_Ala503del
NM_001258274.2:c.1501_1509del	NP_001245203.1:p.Gln501_Ala503del
NM_001354615.1:c.1501_1509del	NP_001341544.1:p.Gln501_Ala503del
NM_001354616.1:c.1501_1509del	NP_001341545.1:p.Gln501_Ala503del
NM_001354617.1:c.1501_1509del	NP_001341546.1:p.Gln501_Ala503del
NM_001354618.1:c.1501_1509del	NP_001341547.1:p.Gln501_Ala503del
NM_001354619.1:c.1501_1509del	NP_001341548.1:p.Gln501_Ala503del
NM_001354620.1:c.1930_1938del	NP_001341549.1:p.Gln644_Ala646del
NM_001354621.1:c.1201_1209del	NP_001341550.1:p.Gln401_Ala403del
NM_001354622.1:c.1201_1209del	NP_001341551.1:p.Gln401_Ala403del
NM_001354623.1:c.1201_1209del	NP_001341552.1:p.Gln401_Ala403del
NM_001354624.1:c.1150_1158del	NP_001341553.1:p.Gln384_Ala386del
NM_001354625.1:c.1150_1158del	NP_001341554.1:p.Gln384_Ala386del
NM_001354626.1:c.1150_1158del	NP_001341555.1:p.Gln384_Ala386del
NM_001354627.1:c.1150_1158del	NP_001341556.1:p.Gln384_Ala386del
NM_001354628.1:c.2131_2139del	NP_001341557.1:p.Gln711_Ala713del
NM_001354629.1:c.2125_2133del	NP_001341558.1:p.Gln709_Ala711del
NM_001354630.1:c.2059_2067del	NP_001341559.1:p.Gln687_Ala689del
XM_005265161.2:c.2017_2025del	XP_005265218.1:p.Gln673_Ala675del
XM_017006450.2:c.1201_1209del	XP_016861939.1:p.Gln401_Ala403del
NM_000249.4:c.2224_2232del MANE Select	NP_000240.1:p.Gln742_Ala744del
NM_001167617.3:c.1930_1938del	NP_001161089.1:p.Gln644_Ala646del
NM_001167618.3:c.1501_1509del	NP_001161090.1:p.Gln501_Ala503del
NM_001167619.3:c.1501_1509del	NP_001161091.1:p.Gln501_Ala503del
NM_001258271.2:c.2017_2025del	NP_001245200.1:p.Gln673_Ala675del
NM_001258273.2:c.1501_1509del	NP_001245202.1:p.Gln501_Ala503del
NM_001258274.3:c.1501_1509del	NP_001245203.1:p.Gln501_Ala503del
NM_001354615.2:c.1501_1509del	NP_001341544.1:p.Gln501_Ala503del
NM_001354616.2:c.1501_1509del	NP_001341545.1:p.Gln501_Ala503del
NM_001354617.2:c.1501_1509del	NP_001341546.1:p.Gln501_Ala503del
NM_001354618.2:c.1501_1509del	NP_001341547.1:p.Gln501_Ala503del
NM_001354619.2:c.1501_1509del	NP_001341548.1:p.Gln501_Ala503del
NM_001354620.2:c.1930_1938del	NP_001341549.1:p.Gln644_Ala646del
NM_001354621.2:c.1201_1209del	NP_001341550.1:p.Gln401_Ala403del
NM_001354622.2:c.1201_1209del	NP_001341551.1:p.Gln401_Ala403del
NM_001354623.2:c.1201_1209del	NP_001341552.1:p.Gln401_Ala403del
NM_001354624.2:c.1150_1158del	NP_001341553.1:p.Gln384_Ala386del
NM_001354625.2:c.1150_1158del	NP_001341554.1:p.Gln384_Ala386del
NM_001354626.2:c.1150_1158del	NP_001341555.1:p.Gln384_Ala386del
NM_001354627.2:c.1150_1158del	NP_001341556.1:p.Gln384_Ala386del
NM_001354628.2:c.2131_2139del	NP_001341557.1:p.Gln711_Ala713del
NM_001354629.2:c.2125_2133del	NP_001341558.1:p.Gln709_Ala711del
NM_001354630.2:c.2059_2067del	NP_001341559.1:p.Gln687_Ala689del