Canonical Allele Identifier: CA1978917155

Gene: PYGM

Linked Data

• dbSNP Id: rs2058357852

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751706_64751708del , CM000673.2:g.64751706_64751708del	GRCh38
NC_000011.9:g.64519178_64519180del , CM000673.1:g.64519178_64519180del	GRCh37
NC_000011.8:g.64275754_64275756del	NCBI36
NG_013018.1:g.14012_14014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1769-49_1769-47del MANE Select	ENSP00000164139.3:n.1769-49_1769-47del
ENST00000164139.3:c.1769-49_1769-47del	ENSP00000164139.3:n.1769-49_1769-47del
ENST00000377432.7:c.1505-49_1505-47del	ENSP00000366650.3:n.1505-49_1505-47del
ENST00000462303.1:n.93-49_93-47del
NM_001164716.1:c.1505-49_1505-47del	NP_001158188.1:n.1505-49_1505-47del
NM_005609.2:c.1769-49_1769-47del	NP_005600.1:n.1769-49_1769-47del
NM_005609.3:c.1769-49_1769-47del	NP_005600.1:n.1769-49_1769-47del
NM_005609.4:c.1769-49_1769-47del MANE Select	NP_005600.1:n.1769-49_1769-47del