Canonical Allele Identifier: CA2646032733
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

gnomAD v4: 1-63593571-TGTTCCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593573_63593578del , CM000663.2:g.63593573_63593578del GRCh38
NC_000001.10:g.64059244_64059249del , CM000663.1:g.64059244_64059249del GRCh37
NC_000001.9:g.63831832_63831837del NCBI36
NG_016966.1:g.5298_5303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.85_90del (PGM1) MANE Select ENSP00000360125.3:p.Phe29_Gln30del
ENST00000650546.1:c.85_90del (PGM1) ENSP00000497812.1:p.Phe29_Gln30del
ENST00000371084.7:c.85_90del (PGM1) ENSP00000360125.3:p.Phe29_Gln30del
ENST00000478138.1:n.145_150del (ITGB3BP)
NM_002633.2:c.85_90del (PGM1) NP_002624.2:p.Phe29_Gln30del
NM_002633.3:c.85_90del (PGM1) MANE Select NP_002624.2:p.Phe29_Gln30del
Search 100 bp 5'
Search 100 bp 3'