Canonical Allele Identifier: CA2646032699
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593410del , CM000663.2:g.63593410del GRCh38
NC_000001.10:g.64059081del , CM000663.1:g.64059081del GRCh37
NC_000001.9:g.63831669del NCBI36
NG_016966.1:g.5135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-79del (PGM1) ENSP00000360125.3:n.-79del
ENST00000478138.1:n.197+118del (ITGB3BP)
NM_002633.2:c.-79del (PGM1) NP_002624.2:n.-79del