Canonical Allele Identifier: CA2743891905

Gene: PGM1 ITGB3BP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593418_63593419insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC , CM000663.2:g.63593418_63593419insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC	GRCh38
NC_000001.10:g.64059089_64059090insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC , CM000663.1:g.64059089_64059090insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC	GRCh37
NC_000001.9:g.63831677_63831678insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC	NCBI36
NG_016966.1:g.5143_5144insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC (PGM1) MANE Select	ENSP00000360125.3:n.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCG...
ENST00000650546.1:c.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC (PGM1)	ENSP00000497812.1:n.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCG...
ENST00000371084.7:c.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC (PGM1)	ENSP00000360125.3:n.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCG...
ENST00000478138.1:n.197+107_197+108insGGTATTATTGCGGTTTCCTTTATGGTGGACGCCTCCTTCTCG (ITGB3BP)
NM_002633.2:c.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC (PGM1)	NP_002624.2:n.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAA...
NM_002633.3:c.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAATACCC (PGM1) MANE Select	NP_002624.2:n.-71_-70insGAGAAGGAGGCGTCCACCATAAAGGAAACCGCAATAA...