Canonical Allele Identifier: CA523563083
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs1366293523
gnomAD v2: 1-64059125-TCCGCCGCTCTGA-T
gnomAD v4: 1-63593454-TCCGCCGCTCTGA-T
MyVariant Identifiers: chr1:g.64059126_64059137del (hg19) chr1:g.63593455_63593466del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593457_63593468del , CM000663.2:g.63593457_63593468del GRCh38
NC_000001.10:g.64059128_64059139del , CM000663.1:g.64059128_64059139del GRCh37
NC_000001.9:g.63831716_63831727del NCBI36
NG_016966.1:g.5182_5193del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-32_-21del (PGM1) MANE Select ENSP00000360125.3:n.-32_-21del
ENST00000650546.1:c.-32_-21del (PGM1) ENSP00000497812.1:n.-32_-21del
ENST00000371084.7:c.-32_-21del (PGM1) ENSP00000360125.3:n.-32_-21del
ENST00000478138.1:n.197+59_197+70del (ITGB3BP)
NM_002633.2:c.-32_-21del (PGM1) NP_002624.2:n.-32_-21del
NM_002633.3:c.-32_-21del (PGM1) MANE Select NP_002624.2:n.-32_-21del
Search 100 bp 5'
Search 100 bp 3'