Canonical Allele Identifier: CA725520873
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1174224992
gnomAD v3: 16-8797762-AT-A
gnomAD v4: 16-8797762-AT-A
MyVariant Identifiers: chr16:g.8891620del (hg19) chr16:g.8797763del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797763del , CM000678.2:g.8797763del GRCh38
NC_000016.9:g.8891620del , CM000678.1:g.8891620del GRCh37
NC_000016.8:g.8799121del NCBI36
NG_009209.1:g.4951del
NG_033146.1:g.4886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-120del ENSP00000507849.1:n.-120del
ENST00000566983.5:c.-15-4036del ENSP00000457956.1:n.-15-4036del
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