Canonical Allele Identifier: CA2614192191

Gene: PYGM

Linked Data

• gnomAD v4: 11-64760023-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64760027del , CM000673.2:g.64760027del	GRCh38
NC_000011.9:g.64527499del , CM000673.1:g.64527499del	GRCh37
NC_000011.8:g.64284075del	NCBI36
NG_013018.1:g.5692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.3:c.-126del	ENSP00000164139.3:n.-126del
NM_001164716.1:c.-126del	NP_001158188.1:n.-126del
NM_005609.2:c.-126del	NP_005600.1:n.-126del
NM_005609.3:c.-126del	NP_005600.1:n.-126del