Canonical Allele Identifier: CA1978919528

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752797_64752798delinsGC , CM000673.2:g.64752797_64752798delinsGC	GRCh38
NC_000011.9:g.64520269_64520270delinsGC , CM000673.1:g.64520269_64520270delinsGC	GRCh37
NC_000011.8:g.64276845_64276846delinsGC	NCBI36
NG_013018.1:g.12918_12919delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1518+275_1518+276delinsGC MANE Select	ENSP00000164139.3:n.1518+275_1518+276delinsGC
ENST00000164139.3:c.1518+275_1518+276delinsGC	ENSP00000164139.3:n.1518+275_1518+276delinsGC
ENST00000377432.7:c.1254+275_1254+276delinsGC	ENSP00000366650.3:n.1254+275_1254+276delinsGC
NM_001164716.1:c.1254+275_1254+276delinsGC	NP_001158188.1:n.1254+275_1254+276delinsGC
NM_005609.2:c.1518+275_1518+276delinsGC	NP_005600.1:n.1518+275_1518+276delinsGC
NM_005609.3:c.1518+275_1518+276delinsGC	NP_005600.1:n.1518+275_1518+276delinsGC
NM_005609.4:c.1518+275_1518+276delinsGC MANE Select	NP_005600.1:n.1518+275_1518+276delinsGC