Canonical Allele Identifier: CA2805787355
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797702_8797703insGGCAAGAACG , CM000678.2:g.8797702_8797703insGGCAAGAACG GRCh38
NC_000016.9:g.8891559_8891560insGGCAAGAACG , CM000678.1:g.8891559_8891560insGGCAAGAACG GRCh37
NC_000016.8:g.8799060_8799061insGGCAAGAACG NCBI36
NG_009209.1:g.4890_4891insGGCAAGAACG
NG_033146.1:g.4946_4947insCGTTCTTGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4097_-15-4096insGGCAAGAACG ENSP00000457956.1:n.-15-4097_-15-4096insGGCAAGAACG