Canonical Allele Identifier: CA2665005701
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993292_36993293del , CM000665.2:g.36993292_36993293del GRCh38
NC_000003.11:g.37034783_37034784del , CM000665.1:g.37034783_37034784del GRCh37
NC_000003.10:g.37009787_37009788del NCBI36
NG_007109.2:g.4943_4944del , LRG_216:g.4943_4944del
NG_008418.1:g.5015_5016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-256_-255del (MLH1) ENSP00000500979.2:n.-256_-255del
NM_014805.3:c.-213_-212del (EPM2AIP1) NP_055620.1:n.-213_-212del