Canonical Allele Identifier: CA2574865437

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747011_64747012del , CM000673.2:g.64747011_64747012del	GRCh38
NC_000011.9:g.64514483_64514484del , CM000673.1:g.64514483_64514484del	GRCh37
NC_000011.8:g.64271059_64271060del	NCBI36
NG_007574.1:g.3447_3448del , LRG_100:g.3447_3448del
NG_013018.1:g.18706_18707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-23_2313-22del MANE Select	ENSP00000164139.3:n.2313-23_2313-22del
ENST00000164139.3:c.2313-23_2313-22del	ENSP00000164139.3:n.2313-23_2313-22del
ENST00000377432.7:c.2049-23_2049-22del	ENSP00000366650.3:n.2049-23_2049-22del
ENST00000483742.1:n.1666-23_1666-22del
NM_001164716.1:c.2049-23_2049-22del	NP_001158188.1:n.2049-23_2049-22del
NM_005609.2:c.2313-23_2313-22del	NP_005600.1:n.2313-23_2313-22del
NM_005609.3:c.2313-23_2313-22del	NP_005600.1:n.2313-23_2313-22del
NM_005609.4:c.2313-23_2313-22del MANE Select	NP_005600.1:n.2313-23_2313-22del