Canonical Allele Identifier: CA1171556239

Gene: PGM1 ITGB3BP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593376_63593381delinsTGCGGC , CM000663.2:g.63593376_63593381delinsTGCGGC	GRCh38
NC_000001.10:g.64059047_64059052delinsTGCGGC , CM000663.1:g.64059047_64059052delinsTGCGGC	GRCh37
NC_000001.9:g.63831635_63831640delinsTGCGGC	NCBI36
NG_016966.1:g.5101_5106delinsTGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.7:c.-113_-108delinsTGCGGC (PGM1)	ENSP00000360125.3:n.-113_-108delinsTGCGGC
ENST00000478138.1:n.197+144_197+149delinsGCCGCA (ITGB3BP)
NM_002633.2:c.-113_-108delinsTGCGGC (PGM1)	NP_002624.2:n.-113_-108delinsTGCGGC