Canonical Allele Identifier: CA2631641495
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797684-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797684_8797685insC , CM000678.2:g.8797684_8797685insC GRCh38
NC_000016.9:g.8891541_8891542insC , CM000678.1:g.8891541_8891542insC GRCh37
NC_000016.8:g.8799042_8799043insC NCBI36
NG_009209.1:g.4872_4873insC
NG_033146.1:g.4964_4965insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4115_-15-4114insC ENSP00000457956.1:n.-15-4115_-15-4114insC
Search 100 bp 5'
Search 100 bp 3'