Canonical Allele Identifier: CA915942387
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821477
ClinVar RCV Id: RCV001015934
dbSNP Id: rs1575373098

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993292_36993293dup , CM000665.2:g.36993292_36993293dup GRCh38
NC_000003.11:g.37034783_37034784dup , CM000665.1:g.37034783_37034784dup GRCh37
NC_000003.10:g.37009787_37009788dup NCBI36
NG_007109.2:g.4943_4944dup , LRG_216:g.4943_4944dup
NG_008418.1:g.5015_5016dup

Transcript Alleles

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