Canonical Allele Identifier: CA2614197478

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753543-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753545del , CM000673.2:g.64753545del	GRCh38
NC_000011.9:g.64521017del , CM000673.1:g.64521017del	GRCh37
NC_000011.8:g.64277593del	NCBI36
NG_013018.1:g.12172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1378del MANE Select	ENSP00000164139.3:p.His460ThrfsTer?
ENST00000164139.3:c.1378del	ENSP00000164139.3:p.His460ThrfsTer?
ENST00000377432.7:c.1114del	ENSP00000366650.3:p.His372ThrfsTer?
NM_001164716.1:c.1114del	NP_001158188.1:p.His372ThrfsTer?
NM_005609.2:c.1378del	NP_005600.1:p.His460ThrfsTer?
NM_005609.3:c.1378del	NP_005600.1:p.His460ThrfsTer?
NM_005609.4:c.1378del MANE Select	NP_005600.1:p.His460ThrfsTer?