Canonical Allele Identifier: CA2631641496
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797685-T-TGGAGGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797685_8797686insGGAGGGA , CM000678.2:g.8797685_8797686insGGAGGGA GRCh38
NC_000016.9:g.8891542_8891543insGGAGGGA , CM000678.1:g.8891542_8891543insGGAGGGA GRCh37
NC_000016.8:g.8799043_8799044insGGAGGGA NCBI36
NG_009209.1:g.4873_4874insGGAGGGA
NG_033146.1:g.4963_4964insTCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4114_-15-4113insGGAGGGA ENSP00000457956.1:n.-15-4114_-15-4113insGGAGGGA
Search 100 bp 5'
Search 100 bp 3'