Canonical Allele Identifier: CA2574864820

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751522_64751529del , CM000673.2:g.64751522_64751529del	GRCh38
NC_000011.9:g.64518994_64519001del , CM000673.1:g.64518994_64519001del	GRCh37
NC_000011.8:g.64275570_64275577del	NCBI36
NG_013018.1:g.14188_14195del

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1828-62_1828-55del MANE Select	ENSP00000164139.3:n.1828-62_1828-55del
ENST00000164139.3:c.1828-62_1828-55del	ENSP00000164139.3:n.1828-62_1828-55del
ENST00000377432.7:c.1564-62_1564-55del	ENSP00000366650.3:n.1564-62_1564-55del
ENST00000462303.1:n.152-62_152-55del
NM_001164716.1:c.1564-62_1564-55del	NP_001158188.1:n.1564-62_1564-55del
NM_005609.2:c.1828-62_1828-55del	NP_005600.1:n.1828-62_1828-55del
NM_005609.3:c.1828-62_1828-55del	NP_005600.1:n.1828-62_1828-55del
NM_005609.4:c.1828-62_1828-55del MANE Select	NP_005600.1:n.1828-62_1828-55del