Canonical Allele Identifier: CA938842311

Gene: PYGM

Linked Data

• dbSNP Id: rs2058424370
• gnomAD v3: 11-64760007-TG-T
• gnomAD v4: 11-64760007-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64760009del , CM000673.2:g.64760009del	GRCh38
NC_000011.9:g.64527481del , CM000673.1:g.64527481del	GRCh37
NC_000011.8:g.64284057del	NCBI36
NG_013018.1:g.5708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.3:c.-110del	ENSP00000164139.3:n.-110del
NM_001164716.1:c.-110del	NP_001158188.1:n.-110del
NM_005609.2:c.-110del	NP_005600.1:n.-110del
NM_005609.3:c.-110del	NP_005600.1:n.-110del