Canonical Allele Identifier: CA2206128102
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797651_8797652delinsGC , CM000678.2:g.8797651_8797652delinsGC GRCh38
NC_000016.9:g.8891508_8891509delinsGC , CM000678.1:g.8891508_8891509delinsGC GRCh37
NC_000016.8:g.8799009_8799010delinsGC NCBI36
NG_009209.1:g.4839_4840delinsGC
NG_033146.1:g.4997_4998delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4148_-15-4147delinsGC ENSP00000457956.1:n.-15-4148_-15-4147delinsGC