Canonical Allele Identifier: CA2580084890
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2061823
ClinVar RCV Id: RCV002952971
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759759del , CM000673.2:g.64759759del GRCh38
NC_000011.9:g.64527231del , CM000673.1:g.64527231del GRCh37
NC_000011.8:g.64283807del NCBI36
NG_013018.1:g.5958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.141del MANE Select ENSP00000164139.3:p.Thr48ProfsTer?
ENST00000164139.3:c.141del ENSP00000164139.3:p.Thr48ProfsTer?
ENST00000377432.7:c.141del ENSP00000366650.3:p.Thr48ProfsTer?
NM_001164716.1:c.141del NP_001158188.1:p.Thr48ProfsTer?
NM_005609.2:c.141del NP_005600.1:p.Thr48ProfsTer?
NM_005609.3:c.141del NP_005600.1:p.Thr48ProfsTer?
NM_005609.4:c.141del MANE Select NP_005600.1:p.Thr48ProfsTer?
Search 100 bp 5'
Search 100 bp 3'