Canonical Allele Identifier: CA16617923

Gene: MLH1

Linked Data

• ClinVar Variation Id: 420543
• ClinVar RCV Id: RCV000484278
• dbSNP Id: rs1064794546
• MyVariant Identifiers: chr3:g.37081804_37081805del (hg19) ; chr3:g.37040313_37040314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37040313_37040314del , CM000665.2:g.37040313_37040314del	GRCh38
NC_000003.11:g.37081804_37081805del , CM000665.1:g.37081804_37081805del	GRCh37
NC_000003.10:g.37056808_37056809del	NCBI36
NG_007109.2:g.51964_51965del , LRG_216:g.51964_51965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1667+19_1667+20del	ENSP00000416476.2:n.1667+19_1667+20del
ENST00000429117.6:c.1373+19_1373+20del	ENSP00000407019.2:n.1373+19_1373+20del
ENST00000450420.6:c.1559-10173_1559-10172del	ENSP00000393006.2:n.1559-10173_1559-10172del
ENST00000456676.7:c.1667+19_1667+20del	ENSP00000416687.3:n.1667+19_1667+20del
ENST00000492474.6:c.944+19_944+20del	ENSP00000518393.1:n.944+19_944+20del
ENST00000616768.6:c.1667+19_1667+20del	ENSP00000480669.3:n.1667+19_1667+20del
ENST00000673673.2:c.1667+19_1667+20del	ENSP00000500979.2:n.1667+19_1667+20del
ENST00000231790.8:c.1667+19_1667+20del MANE Select	ENSP00000231790.3:n.1667+19_1667+20del
ENST00000413212.2:c.*585+19_*585+20del	ENSP00000400844.2:n.*585+19_*585+20del
ENST00000432299.6:c.*1499+19_*1499+20del	ENSP00000416783.1:n.*1499+19_*1499+20del
ENST00000441265.6:c.944+19_944+20del	ENSP00000398392.2:n.944+19_944+20del
ENST00000447829.6:c.*778+19_*778+20del	ENSP00000399329.2:n.*778+19_*778+20del
ENST00000539477.6:c.944+19_944+20del	ENSP00000443665.1:n.944+19_944+20del
ENST00000616768.5:c.704+19_704+20del	ENSP00000480669.2:n.704+19_704+20del
ENST00000673673.1:c.1620+19_1620+20del
ENST00000673715.1:c.1667+19_1667+20del	ENSP00000501301.1:n.1667+19_1667+20del
ENST00000673889.1:n.1049+19_1049+20del
ENST00000673897.1:c.*1459+19_*1459+20del	ENSP00000501109.1:n.*1459+19_*1459+20del
ENST00000673899.1:c.935+19_935+20del	ENSP00000501030.1:n.935+19_935+20del
ENST00000673947.1:c.*1807+19_*1807+20del	ENSP00000501304.1:n.*1807+19_*1807+20del
ENST00000673972.1:c.*1545+19_*1545+20del	ENSP00000501281.1:n.*1545+19_*1545+20del
ENST00000673990.1:n.1558+19_1558+20del
ENST00000674019.1:c.944+19_944+20del	ENSP00000501081.1:n.944+19_944+20del
ENST00000674111.1:c.1667+19_1667+20del	ENSP00000501162.1:n.1667+19_1667+20del
ENST00000674125.1:n.378+19_378+20del
ENST00000231790.6:c.1667+19_1667+20del	ENSP00000231790.2:n.1667+19_1667+20del
ENST00000413740.1:c.290+19_290+20del	ENSP00000416476.1:n.290+19_290+20del
ENST00000435176.5:c.1373+19_1373+20del	ENSP00000402564.1:n.1373+19_1373+20del
ENST00000450420.5:c.182-10173_182-10172del	ENSP00000393006.1:n.182-10173_182-10172del
ENST00000455445.6:c.944+19_944+20del	ENSP00000398272.2:n.944+19_944+20del
ENST00000456676.6:c.1642+19_1642+20del
ENST00000458205.6:c.944+19_944+20del	ENSP00000402667.2:n.944+19_944+20del
ENST00000536378.5:c.944+19_944+20del	ENSP00000444286.2:n.944+19_944+20del
ENST00000539477.5:c.944+19_944+20del	ENSP00000443665.1:n.944+19_944+20del
ENST00000616768.4:c.435+19_435+20del
NM_000249.3:c.1667+19_1667+20del , LRG_216t1:c.1667+19_1667+20del	NP_000240.1:n.1667+19_1667+20del
NM_001167617.1:c.1373+19_1373+20del	NP_001161089.1:n.1373+19_1373+20del
NM_001167618.1:c.944+19_944+20del	NP_001161090.1:n.944+19_944+20del
NM_001167619.1:c.944+19_944+20del	NP_001161091.1:n.944+19_944+20del
NM_001258271.1:c.1667+19_1667+20del	NP_001245200.1:n.1667+19_1667+20del
NM_001258273.1:c.944+19_944+20del	NP_001245202.1:n.944+19_944+20del
NM_001258274.1:c.944+19_944+20del	NP_001245203.1:n.944+19_944+20del
XM_005265161.1:c.1460+19_1460+20del	XP_005265218.1:n.1460+19_1460+20del
XM_005265163.1:c.944+19_944+20del	XP_005265220.1:n.944+19_944+20del
XM_005265164.1:c.944+19_944+20del	XP_005265221.1:n.944+19_944+20del
XM_005265166.1:c.644+19_644+20del	XP_005265223.1:n.644+19_644+20del
XM_011533727.1:c.593+19_593+20del	XP_011532029.1:n.593+19_593+20del
NM_001167617.2:c.1373+19_1373+20del	NP_001161089.1:n.1373+19_1373+20del
NM_001167618.2:c.944+19_944+20del	NP_001161090.1:n.944+19_944+20del
NM_001167619.2:c.944+19_944+20del	NP_001161091.1:n.944+19_944+20del
NM_001258274.2:c.944+19_944+20del	NP_001245203.1:n.944+19_944+20del
NM_001354615.1:c.944+19_944+20del	NP_001341544.1:n.944+19_944+20del
NM_001354616.1:c.944+19_944+20del	NP_001341545.1:n.944+19_944+20del
NM_001354617.1:c.944+19_944+20del	NP_001341546.1:n.944+19_944+20del
NM_001354618.1:c.944+19_944+20del	NP_001341547.1:n.944+19_944+20del
NM_001354619.1:c.944+19_944+20del	NP_001341548.1:n.944+19_944+20del
NM_001354620.1:c.1373+19_1373+20del	NP_001341549.1:n.1373+19_1373+20del
NM_001354621.1:c.644+19_644+20del	NP_001341550.1:n.644+19_644+20del
NM_001354622.1:c.644+19_644+20del	NP_001341551.1:n.644+19_644+20del
NM_001354623.1:c.644+19_644+20del	NP_001341552.1:n.644+19_644+20del
NM_001354624.1:c.593+19_593+20del	NP_001341553.1:n.593+19_593+20del
NM_001354625.1:c.593+19_593+20del	NP_001341554.1:n.593+19_593+20del
NM_001354626.1:c.593+19_593+20del	NP_001341555.1:n.593+19_593+20del
NM_001354627.1:c.593+19_593+20del	NP_001341556.1:n.593+19_593+20del
NM_001354628.1:c.1667+19_1667+20del	NP_001341557.1:n.1667+19_1667+20del
NM_001354629.1:c.1568+19_1568+20del	NP_001341558.1:n.1568+19_1568+20del
NM_001354630.1:c.1667+19_1667+20del	NP_001341559.1:n.1667+19_1667+20del
XM_005265161.2:c.1460+19_1460+20del	XP_005265218.1:n.1460+19_1460+20del
XM_017006450.2:c.644+19_644+20del	XP_016861939.1:n.644+19_644+20del
NM_000249.4:c.1667+19_1667+20del MANE Select	NP_000240.1:n.1667+19_1667+20del
NM_001167617.3:c.1373+19_1373+20del	NP_001161089.1:n.1373+19_1373+20del
NM_001167618.3:c.944+19_944+20del	NP_001161090.1:n.944+19_944+20del
NM_001167619.3:c.944+19_944+20del	NP_001161091.1:n.944+19_944+20del
NM_001258271.2:c.1667+19_1667+20del	NP_001245200.1:n.1667+19_1667+20del
NM_001258273.2:c.944+19_944+20del	NP_001245202.1:n.944+19_944+20del
NM_001258274.3:c.944+19_944+20del	NP_001245203.1:n.944+19_944+20del
NM_001354615.2:c.944+19_944+20del	NP_001341544.1:n.944+19_944+20del
NM_001354616.2:c.944+19_944+20del	NP_001341545.1:n.944+19_944+20del
NM_001354617.2:c.944+19_944+20del	NP_001341546.1:n.944+19_944+20del
NM_001354618.2:c.944+19_944+20del	NP_001341547.1:n.944+19_944+20del
NM_001354619.2:c.944+19_944+20del	NP_001341548.1:n.944+19_944+20del
NM_001354620.2:c.1373+19_1373+20del	NP_001341549.1:n.1373+19_1373+20del
NM_001354621.2:c.644+19_644+20del	NP_001341550.1:n.644+19_644+20del
NM_001354622.2:c.644+19_644+20del	NP_001341551.1:n.644+19_644+20del
NM_001354623.2:c.644+19_644+20del	NP_001341552.1:n.644+19_644+20del
NM_001354624.2:c.593+19_593+20del	NP_001341553.1:n.593+19_593+20del
NM_001354625.2:c.593+19_593+20del	NP_001341554.1:n.593+19_593+20del
NM_001354626.2:c.593+19_593+20del	NP_001341555.1:n.593+19_593+20del
NM_001354627.2:c.593+19_593+20del	NP_001341556.1:n.593+19_593+20del
NM_001354628.2:c.1667+19_1667+20del	NP_001341557.1:n.1667+19_1667+20del
NM_001354629.2:c.1568+19_1568+20del	NP_001341558.1:n.1568+19_1568+20del
NM_001354630.2:c.1667+19_1667+20del	NP_001341559.1:n.1667+19_1667+20del