Canonical Allele Identifier: CA620726902
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1027555944
gnomAD v2: 16-8891508-GC-G
gnomAD v4: 16-8797651-GC-G
MyVariant Identifiers: chr16:g.8891509del (hg19) chr16:g.8797652del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797656del , CM000678.2:g.8797656del GRCh38
NC_000016.9:g.8891513del , CM000678.1:g.8891513del GRCh37
NC_000016.8:g.8799014del NCBI36
NG_009209.1:g.4844del
NG_033146.1:g.4997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4143del ENSP00000457956.1:n.-15-4143del
Search 100 bp 5'
Search 100 bp 3'