Canonical Allele Identifier: CA1357864583

Gene: MLH1 EPM2AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993267_36993280delinsCAATAGGAAGAGCG , CM000665.2:g.36993267_36993280delinsCAATAGGAAGAGCG	GRCh38
NC_000003.11:g.37034758_37034771delinsCAATAGGAAGAGCG , CM000665.1:g.37034758_37034771delinsCAATAGGAAGAGCG	GRCh37
NC_000003.10:g.37009762_37009775delinsCAATAGGAAGAGCG	NCBI36
NG_007109.2:g.4918_4931delinsCAATAGGAAGAGCG , LRG_216:g.4918_4931delinsCAATAGGAAGAGCG
NG_008418.1:g.5025_5038delinsCGCTCTTCCTATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-281_-268delinsCAATAGGAAGAGCG (MLH1)	ENSP00000500979.2:n.-281_-268delinsCAATAGGAAGAGCG
NM_014805.3:c.-203_-190delinsCGCTCTTCCTATTG (EPM2AIP1)	NP_055620.1:n.-203_-190delinsCGCTCTTCCTATTG