Canonical Allele Identifier: CA23820538
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs991285512
gnomAD v3: 1-63593405-C-CA
gnomAD v4: 1-63593405-C-CA
MyVariant Identifiers: chr1:g.64059076_64059077insA (hg19) chr1:g.63593405_63593406insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593406dup , CM000663.2:g.63593406dup GRCh38
NC_000001.10:g.64059077dup , CM000663.1:g.64059077dup GRCh37
NC_000001.9:g.63831665dup NCBI36
NG_016966.1:g.5131dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-83dup (PGM1) ENSP00000360125.3:n.-83dup
ENST00000478138.1:n.197+119dup (ITGB3BP)
NM_002633.2:c.-83dup (PGM1) NP_002624.2:n.-83dup
Search 100 bp 5'
Search 100 bp 3'