Canonical Allele Identifier: CA2631641432
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797647-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797649del , CM000678.2:g.8797649del GRCh38
NC_000016.9:g.8891506del , CM000678.1:g.8891506del GRCh37
NC_000016.8:g.8799007del NCBI36
NG_009209.1:g.4837del
NG_033146.1:g.5001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4150del ENSP00000457956.1:n.-15-4150del
Search 100 bp 5'
Search 100 bp 3'