Canonical Allele Identifier: CA1357864567

Gene: MLH1 EPM2AIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993244_36993265delinsTCCCCGAGCTCCTAAAAACGAA , CM000665.2:g.36993244_36993265delinsTCCCCGAGCTCCTAAAAACGAA	GRCh38
NC_000003.11:g.37034735_37034756delinsTCCCCGAGCTCCTAAAAACGAA , CM000665.1:g.37034735_37034756delinsTCCCCGAGCTCCTAAAAACGAA	GRCh37
NC_000003.10:g.37009739_37009760delinsTCCCCGAGCTCCTAAAAACGAA	NCBI36
NG_007109.2:g.4895_4916delinsTCCCCGAGCTCCTAAAAACGAA , LRG_216:g.4895_4916delinsTCCCCGAGCTCCTAAAAACGAA
NG_008418.1:g.5040_5061delinsTTCGTTTTTAGGAGCTCGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-304_-283delinsTCCCCGAGCTCCTAAAAACGAA (MLH1)	ENSP00000500979.2:n.-304_-283delinsTCCCCGAGCTCCTAAAAACGAA
NM_014805.3:c.-188_-167delinsTTCGTTTTTAGGAGCTCGGGGA (EPM2AIP1)	NP_055620.1:n.-188_-167delinsTTCGTTTTTAGGAGCTCGGGGA