Canonical Allele Identifier: CA2614191635

Gene: PYGM

Linked Data

• gnomAD v4: 11-64759608-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759610dup , CM000673.2:g.64759610dup	GRCh38
NC_000011.9:g.64527082dup , CM000673.1:g.64527082dup	GRCh37
NC_000011.8:g.64283658dup	NCBI36
NG_013018.1:g.6107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.243+47dup MANE Select	ENSP00000164139.3:n.243+47dup
ENST00000164139.3:c.243+47dup	ENSP00000164139.3:n.243+47dup
ENST00000377432.7:c.243+47dup	ENSP00000366650.3:n.243+47dup
NM_001164716.1:c.243+47dup	NP_001158188.1:n.243+47dup
NM_005609.2:c.243+47dup	NP_005600.1:n.243+47dup
NM_005609.3:c.243+47dup	NP_005600.1:n.243+47dup
NM_005609.4:c.243+47dup MANE Select	NP_005600.1:n.243+47dup