Canonical Allele Identifier: CA2614199333

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747015-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747017del , CM000673.2:g.64747017del	GRCh38
NC_000011.9:g.64514489del , CM000673.1:g.64514489del	GRCh37
NC_000011.8:g.64271065del	NCBI36
NG_007574.1:g.3441del , LRG_100:g.3441del
NG_013018.1:g.18700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-29del MANE Select	ENSP00000164139.3:n.2313-29del
ENST00000164139.3:c.2313-29del	ENSP00000164139.3:n.2313-29del
ENST00000377432.7:c.2049-29del	ENSP00000366650.3:n.2049-29del
ENST00000483742.1:n.1666-29del
NM_001164716.1:c.2049-29del	NP_001158188.1:n.2049-29del
NM_005609.2:c.2313-29del	NP_005600.1:n.2313-29del
NM_005609.3:c.2313-29del	NP_005600.1:n.2313-29del
NM_005609.4:c.2313-29del MANE Select	NP_005600.1:n.2313-29del