Canonical Allele Identifier: CA938864894

Gene: PYGM

Linked Data

• dbSNP Id: rs2058366310
• gnomAD v3: 11-64752890-AC-A
• gnomAD v4: 11-64752890-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752893del , CM000673.2:g.64752893del	GRCh38
NC_000011.9:g.64520365del , CM000673.1:g.64520365del	GRCh37
NC_000011.8:g.64276941del	NCBI36
NG_013018.1:g.12825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1518+182del MANE Select	ENSP00000164139.3:n.1518+182del
ENST00000164139.3:c.1518+182del	ENSP00000164139.3:n.1518+182del
ENST00000377432.7:c.1254+182del	ENSP00000366650.3:n.1254+182del
NM_001164716.1:c.1254+182del	NP_001158188.1:n.1254+182del
NM_005609.2:c.1518+182del	NP_005600.1:n.1518+182del
NM_005609.3:c.1518+182del	NP_005600.1:n.1518+182del
NM_005609.4:c.1518+182del MANE Select	NP_005600.1:n.1518+182del