Canonical Allele Identifier: CA523563051

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs1281770679
• gnomAD v2: 1-64059062-A-AC
• gnomAD v3: 1-63593391-A-AC
• gnomAD v4: 1-63593391-A-AC
• MyVariant Identifiers: chr1:g.64059062_64059063insC (hg19) ; chr1:g.63593391_63593392insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593394dup , CM000663.2:g.63593394dup	GRCh38
NC_000001.10:g.64059065dup , CM000663.1:g.64059065dup	GRCh37
NC_000001.9:g.63831653dup	NCBI36
NG_016966.1:g.5119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.7:c.-95dup (PGM1)	ENSP00000360125.3:n.-95dup
ENST00000478138.1:n.197+133dup (ITGB3BP)
NM_002633.2:c.-95dup (PGM1)	NP_002624.2:n.-95dup