Canonical Allele Identifier: CA2614192120

Gene: PYGM

Linked Data

• gnomAD v4: 11-64759947-GCCTCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759948_64759954del , CM000673.2:g.64759948_64759954del	GRCh38
NC_000011.9:g.64527420_64527426del , CM000673.1:g.64527420_64527426del	GRCh37
NC_000011.8:g.64283996_64284002del	NCBI36
NG_013018.1:g.5762_5768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-56_-50del MANE Select	ENSP00000164139.3:n.-56_-50del
ENST00000164139.3:c.-56_-50del	ENSP00000164139.3:n.-56_-50del
ENST00000377432.7:c.-56_-50del	ENSP00000366650.3:n.-56_-50del
NM_001164716.1:c.-56_-50del	NP_001158188.1:n.-56_-50del
NM_005609.2:c.-56_-50del	NP_005600.1:n.-56_-50del
NM_005609.3:c.-56_-50del	NP_005600.1:n.-56_-50del
NM_005609.4:c.-56_-50del MANE Select	NP_005600.1:n.-56_-50del