Canonical Allele Identifier: CA2831038865

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759766del , CM000673.2:g.64759766del	GRCh38
NC_000011.9:g.64527238del , CM000673.1:g.64527238del	GRCh37
NC_000011.8:g.64283814del	NCBI36
NG_013018.1:g.5951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.134del MANE Select	ENSP00000164139.3:p.Asn45MetfsTer?
ENST00000164139.3:c.134del	ENSP00000164139.3:p.Asn45MetfsTer?
ENST00000377432.7:c.134del	ENSP00000366650.3:p.Asn45MetfsTer?
NM_001164716.1:c.134del	NP_001158188.1:p.Asn45MetfsTer?
NM_005609.2:c.134del	NP_005600.1:p.Asn45MetfsTer?
NM_005609.3:c.134del	NP_005600.1:p.Asn45MetfsTer?
NM_005609.4:c.134del MANE Select	NP_005600.1:p.Asn45MetfsTer?