Canonical Allele Identifier: CA2646032697
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593405_63593406insGG , CM000663.2:g.63593405_63593406insGG GRCh38
NC_000001.10:g.64059076_64059077insGG , CM000663.1:g.64059076_64059077insGG GRCh37
NC_000001.9:g.63831664_63831665insGG NCBI36
NG_016966.1:g.5130_5131insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-84_-83insGG (PGM1) ENSP00000360125.3:n.-84_-83insGG
ENST00000478138.1:n.197+119_197+120insCC (ITGB3BP)
NM_002633.2:c.-84_-83insGG (PGM1) NP_002624.2:n.-84_-83insGG