Canonical Allele Identifier: CA2631641572
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797720-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797722del , CM000678.2:g.8797722del GRCh38
NC_000016.9:g.8891579del , CM000678.1:g.8891579del GRCh37
NC_000016.8:g.8799080del NCBI36
NG_009209.1:g.4910del
NG_033146.1:g.4928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-161del ENSP00000507849.1:n.-161del
ENST00000566983.5:c.-15-4077del ENSP00000457956.1:n.-15-4077del
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