Canonical Allele Identifier: CA1978917130

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751688_64751689delinsAC , CM000673.2:g.64751688_64751689delinsAC	GRCh38
NC_000011.9:g.64519160_64519161delinsAC , CM000673.1:g.64519160_64519161delinsAC	GRCh37
NC_000011.8:g.64275736_64275737delinsAC	NCBI36
NG_013018.1:g.14027_14028delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1769-34_1769-33delinsGT MANE Select	ENSP00000164139.3:n.1769-34_1769-33delinsGT
ENST00000164139.3:c.1769-34_1769-33delinsGT	ENSP00000164139.3:n.1769-34_1769-33delinsGT
ENST00000377432.7:c.1505-34_1505-33delinsGT	ENSP00000366650.3:n.1505-34_1505-33delinsGT
ENST00000462303.1:n.93-34_93-33delinsGT
NM_001164716.1:c.1505-34_1505-33delinsGT	NP_001158188.1:n.1505-34_1505-33delinsGT
NM_005609.2:c.1769-34_1769-33delinsGT	NP_005600.1:n.1769-34_1769-33delinsGT
NM_005609.3:c.1769-34_1769-33delinsGT	NP_005600.1:n.1769-34_1769-33delinsGT
NM_005609.4:c.1769-34_1769-33delinsGT MANE Select	NP_005600.1:n.1769-34_1769-33delinsGT