Canonical Allele Identifier: CA2840305696
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759662del , CM000673.2:g.64759662del GRCh38
NC_000011.9:g.64527134del , CM000673.1:g.64527134del GRCh37
NC_000011.8:g.64283710del NCBI36
NG_013018.1:g.6057del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.240del MANE Select ENSP00000164139.3:p.Lys81ArgfsTer8
ENST00000164139.3:c.240del ENSP00000164139.3:p.Lys81ArgfsTer8
ENST00000377432.7:c.240del ENSP00000366650.3:p.Lys81ArgfsTer?
NM_001164716.1:c.240del NP_001158188.1:p.Lys81ArgfsTer?
NM_005609.2:c.240del NP_005600.1:p.Lys81ArgfsTer8
NM_005609.3:c.240del NP_005600.1:p.Lys81ArgfsTer8
NM_005609.4:c.240del MANE Select NP_005600.1:p.Lys81ArgfsTer8
Search 100 bp 5'
Search 100 bp 3'