Canonical Allele Identifier: CA1171556276

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs1647921674
• gnomAD v4: 1-63593423-G-GCCTCAGCCGGCCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593428_63593442dup , CM000663.2:g.63593428_63593442dup	GRCh38
NC_000001.10:g.64059099_64059113dup , CM000663.1:g.64059099_64059113dup	GRCh37
NC_000001.9:g.63831687_63831701dup	NCBI36
NG_016966.1:g.5153_5167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.-61_-47dup (PGM1) MANE Select	ENSP00000360125.3:n.-61_-47dup
ENST00000650546.1:c.-61_-47dup (PGM1)	ENSP00000497812.1:n.-61_-47dup
ENST00000371084.7:c.-61_-47dup (PGM1)	ENSP00000360125.3:n.-61_-47dup
ENST00000478138.1:n.197+87_197+101dup (ITGB3BP)
NM_002633.2:c.-61_-47dup (PGM1)	NP_002624.2:n.-61_-47dup
NM_002633.3:c.-61_-47dup (PGM1) MANE Select	NP_002624.2:n.-61_-47dup