Canonical Allele Identifier: CA331160

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90422
• ClinVar RCV Id: RCV000075915
• MyVariant Identifiers: chr3:g.37061308_37066756del (hg19) ; chr3:g.37019817_37025265del (hg38)
• PubMed: PMID:15942939

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37019817_37025265del , CM000665.2:g.37019817_37025265del	GRCh38
NC_000003.11:g.37061308_37066756del , CM000665.1:g.37061308_37066756del	GRCh37
NC_000003.10:g.37036312_37041760del	NCBI36
NG_007109.2:g.31468_36916del , LRG_216:g.31468_36916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.885-493_1039-372del
ENST00000429117.6:c.591-493_745-372del
ENST00000450420.6:c.885-493_1039-372del
ENST00000456676.7:c.885-493_1039-372del
ENST00000458009.6:c.884+2218_885-372del	ENSP00000411066.2:n.884+2218_885-372del
ENST00000492474.6:c.162-493_316-372del
ENST00000616768.6:c.885-493_1039-372del
ENST00000673673.2:c.885-493_1039-372del
ENST00000231790.8:c.885-493_1039-372del
ENST00000413212.2:c.67+5273_68-372del	ENSP00000400844.2:n.67+5273_68-372del
ENST00000432299.6:c.*870+5273_*871-372del	ENSP00000416783.1:n.*870+5273_*871-372del...
ENST00000441265.6:c.162-493_316-372del
ENST00000442249.6:n.693-493_847-372del
ENST00000447829.6:c.428-493_*150-372del
ENST00000539477.6:c.162-493_316-372del
ENST00000673673.1:c.838-493_992-372del
ENST00000673713.1:n.916-493_1163-372del
ENST00000673715.1:c.885-493_1039-372del
ENST00000673889.1:n.267-493_421-372del
ENST00000673897.1:c.*677-493_*831-372del
ENST00000673899.1:c.677+7718_678-3519del	ENSP00000501030.1:n.677+7718_678-3519del
ENST00000673947.1:c.*1025-493_*1179-372del
ENST00000673972.1:c.*763-493_*917-372del
ENST00000673990.1:n.776-493_930-372del
ENST00000674019.1:c.162-493_316-372del
ENST00000674107.1:n.733-493_887-372del
ENST00000674111.1:c.885-493_1039-372del
ENST00000231790.6:c.885-493_1039-372del
ENST00000413212.1:c.113+5273_114-372del
ENST00000435176.5:c.591-493_745-372del
ENST00000447829.5:c.172-493_326-372del
ENST00000455445.6:c.162-493_316-372del
ENST00000456676.6:c.860-493_1014-372del
ENST00000458009.5:c.225+2218_226-372del
ENST00000458205.6:c.162-493_316-372del
ENST00000536378.5:c.162-493_316-372del
ENST00000539477.5:c.162-493_316-372del
NM_000249.3:c.885-493_1039-372del , LRG_216t1:c.885-493_1039-372del
NM_001167617.1:c.591-493_745-372del
NM_001167618.1:c.162-493_316-372del
NM_001167619.1:c.162-493_316-372del
NM_001258271.1:c.885-493_1039-372del
NM_001258273.1:c.162-493_316-372del
NM_001258274.1:c.162-493_316-372del
XM_005265161.1:c.678-493_832-372del
XM_005265163.1:c.162-493_316-372del
XM_005265164.1:c.162-493_316-372del
XM_005265166.1:c.-139-493_16-372del
XM_011533727.1:c.-37+5273_-36-372del	XP_011532029.1:n.-37+5273_-36-372del
NM_001167617.2:c.591-493_745-372del
NM_001167618.2:c.162-493_316-372del
NM_001167619.2:c.162-493_316-372del
NM_001258274.2:c.162-493_316-372del
NM_001354615.1:c.162-493_316-372del
NM_001354616.1:c.162-493_316-372del
NM_001354617.1:c.162-493_316-372del
NM_001354618.1:c.162-493_316-372del
NM_001354619.1:c.162-493_316-372del
NM_001354620.1:c.591-493_745-372del
NM_001354621.1:c.-139-493_16-372del
NM_001354622.1:c.-139-493_16-372del
NM_001354623.1:c.-139-493_16-372del
NM_001354624.1:c.-37+5273_-36-372del	NP_001341553.1:n.-37+5273_-36-372del
NM_001354625.1:c.-37+5273_-36-372del	NP_001341554.1:n.-37+5273_-36-372del
NM_001354626.1:c.-37+5273_-36-372del	NP_001341555.1:n.-37+5273_-36-372del
NM_001354627.1:c.-37+5273_-36-372del	NP_001341556.1:n.-37+5273_-36-372del
NM_001354628.1:c.885-493_1039-372del
NM_001354629.1:c.786-493_940-372del
NM_001354630.1:c.885-493_1039-372del
XM_005265161.2:c.678-493_832-372del
XM_017006450.2:c.-139-493_16-372del
NM_000249.4:c.885-493_1039-372del
NM_001167617.3:c.591-493_745-372del
NM_001167618.3:c.162-493_316-372del
NM_001167619.3:c.162-493_316-372del
NM_001258271.2:c.885-493_1039-372del
NM_001258273.2:c.162-493_316-372del
NM_001258274.3:c.162-493_316-372del
NM_001354615.2:c.162-493_316-372del
NM_001354616.2:c.162-493_316-372del
NM_001354617.2:c.162-493_316-372del
NM_001354618.2:c.162-493_316-372del
NM_001354619.2:c.162-493_316-372del
NM_001354620.2:c.591-493_745-372del
NM_001354621.2:c.-139-493_16-372del
NM_001354622.2:c.-139-493_16-372del
NM_001354623.2:c.-139-493_16-372del
NM_001354624.2:c.-37+5273_-36-372del	NP_001341553.1:n.-37+5273_-36-372del
NM_001354625.2:c.-37+5273_-36-372del	NP_001341554.1:n.-37+5273_-36-372del
NM_001354626.2:c.-37+5273_-36-372del	NP_001341555.1:n.-37+5273_-36-372del
NM_001354627.2:c.-37+5273_-36-372del	NP_001341556.1:n.-37+5273_-36-372del
NM_001354628.2:c.885-493_1039-372del
NM_001354629.2:c.786-493_940-372del
NM_001354630.2:c.885-493_1039-372del