Canonical Allele Identifier: CA418198069
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

gnomAD v4: 1-63593384-AGCCCCCACCCGCCGT-A
MyVariant Identifiers: chr1:g.64059056_64059070del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593389_63593403del , CM000663.2:g.63593389_63593403del GRCh38
NC_000001.10:g.64059060_64059074del , CM000663.1:g.64059060_64059074del GRCh37
NC_000001.9:g.63831648_63831662del NCBI36
NG_016966.1:g.5114_5128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-100_-86del (PGM1) ENSP00000360125.3:n.-100_-86del
ENST00000478138.1:n.197+126_197+140del (ITGB3BP)
NM_002633.2:c.-100_-86del (PGM1) NP_002624.2:n.-100_-86del
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