Canonical Allele Identifier: CA331159

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90419
• ClinVar RCV Id: RCV000075912
• dbSNP Id: rs1553647795
• MyVariant Identifiers: chr3:g.37061595_37061913del (hg19) ; chr3:g.37020104_37020422del (hg38)
• PubMed: PMID:17312306 ; PMID:18330910

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37020104_37020422del , CM000665.2:g.37020104_37020422del	GRCh38
NC_000003.11:g.37061595_37061913del , CM000665.1:g.37061595_37061913del	GRCh37
NC_000003.10:g.37036599_37036917del	NCBI36
NG_007109.2:g.31755_32073del , LRG_216:g.31755_32073del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.885-206_997del
ENST00000429117.6:c.591-206_703del
ENST00000450420.6:c.885-206_997del
ENST00000456676.7:c.885-206_997del
ENST00000458009.6:c.884+2505_884+2823del	ENSP00000411066.2:n.884+2505_884+2823del
ENST00000492474.6:c.162-206_274del
ENST00000616768.6:c.885-206_997del
ENST00000673673.2:c.885-206_997del
ENST00000231790.8:c.885-206_997del
ENST00000413212.2:c.68-5533_68-5215del	ENSP00000400844.2:n.68-5533_68-5215del
ENST00000432299.6:c.*871-5533_*871-5215del	ENSP00000416783.1:n.*871-5533_*871-5215de...
ENST00000441265.6:c.162-206_274del
ENST00000442249.6:n.693-206_805del
ENST00000447829.6:c.428-206_*108del
ENST00000539477.6:c.162-206_274del
ENST00000673673.1:c.838-206_950del
ENST00000673713.1:n.916-206_1028del
ENST00000673715.1:c.885-206_997del
ENST00000673889.1:n.267-206_379del
ENST00000673897.1:c.*677-206_*789del
ENST00000673899.1:c.677+8005_677+8323del	ENSP00000501030.1:n.677+8005_677+8323del
ENST00000673947.1:c.*1025-206_*1137del
ENST00000673972.1:c.*763-206_*875del
ENST00000673990.1:n.776-206_888del
ENST00000674019.1:c.162-206_274del
ENST00000674107.1:n.733-206_845del
ENST00000674111.1:c.885-206_997del
ENST00000231790.6:c.885-206_997del
ENST00000413212.1:c.114-5533_114-5215del
ENST00000435176.5:c.591-206_703del
ENST00000441265.5:c.162-206_274del
ENST00000447829.5:c.172-206_284del
ENST00000455445.6:c.162-206_274del
ENST00000456676.6:c.860-206_972del
ENST00000458009.5:c.225+2505_225+2823del
ENST00000458205.6:c.162-206_274del
ENST00000536378.5:c.162-206_274del
ENST00000539477.5:c.162-206_274del
NM_000249.3:c.885-206_997del , LRG_216t1:c.885-206_997del
NM_001167617.1:c.591-206_703del
NM_001167618.1:c.162-206_274del
NM_001167619.1:c.162-206_274del
NM_001258271.1:c.885-206_997del
NM_001258273.1:c.162-206_274del
NM_001258274.1:c.162-206_274del
XM_005265161.1:c.678-206_790del
XM_005265163.1:c.162-206_274del
XM_005265164.1:c.162-206_274del
XM_005265166.1:c.-139-206_-27del
XM_011533727.1:c.-36-5533_-36-5215del	XP_011532029.1:n.-36-5533_-36-5215del
NM_001167617.2:c.591-206_703del
NM_001167618.2:c.162-206_274del
NM_001167619.2:c.162-206_274del
NM_001258274.2:c.162-206_274del
NM_001354615.1:c.162-206_274del
NM_001354616.1:c.162-206_274del
NM_001354617.1:c.162-206_274del
NM_001354618.1:c.162-206_274del
NM_001354619.1:c.162-206_274del
NM_001354620.1:c.591-206_703del
NM_001354621.1:c.-139-206_-27del
NM_001354622.1:c.-139-206_-27del
NM_001354623.1:c.-139-206_-27del
NM_001354624.1:c.-36-5533_-36-5215del	NP_001341553.1:n.-36-5533_-36-5215del
NM_001354625.1:c.-36-5533_-36-5215del	NP_001341554.1:n.-36-5533_-36-5215del
NM_001354626.1:c.-36-5533_-36-5215del	NP_001341555.1:n.-36-5533_-36-5215del
NM_001354627.1:c.-36-5533_-36-5215del	NP_001341556.1:n.-36-5533_-36-5215del
NM_001354628.1:c.885-206_997del
NM_001354629.1:c.786-206_898del
NM_001354630.1:c.885-206_997del
XM_005265161.2:c.678-206_790del
XM_017006450.2:c.-139-206_-27del
NM_000249.4:c.885-206_997del
NM_001167617.3:c.591-206_703del
NM_001167618.3:c.162-206_274del
NM_001167619.3:c.162-206_274del
NM_001258271.2:c.885-206_997del
NM_001258273.2:c.162-206_274del
NM_001258274.3:c.162-206_274del
NM_001354615.2:c.162-206_274del
NM_001354616.2:c.162-206_274del
NM_001354617.2:c.162-206_274del
NM_001354618.2:c.162-206_274del
NM_001354619.2:c.162-206_274del
NM_001354620.2:c.591-206_703del
NM_001354621.2:c.-139-206_-27del
NM_001354622.2:c.-139-206_-27del
NM_001354623.2:c.-139-206_-27del
NM_001354624.2:c.-36-5533_-36-5215del	NP_001341553.1:n.-36-5533_-36-5215del
NM_001354625.2:c.-36-5533_-36-5215del	NP_001341554.1:n.-36-5533_-36-5215del
NM_001354626.2:c.-36-5533_-36-5215del	NP_001341555.1:n.-36-5533_-36-5215del
NM_001354627.2:c.-36-5533_-36-5215del	NP_001341556.1:n.-36-5533_-36-5215del
NM_001354628.2:c.885-206_997del
NM_001354629.2:c.786-206_898del
NM_001354630.2:c.885-206_997del