Canonical Allele Identifier: CA2574864830

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751582dup , CM000673.2:g.64751582dup	GRCh38
NC_000011.9:g.64519054dup , CM000673.1:g.64519054dup	GRCh37
NC_000011.8:g.64275630dup	NCBI36
NG_013018.1:g.14134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1827+15dup MANE Select	ENSP00000164139.3:n.1827+15dup
ENST00000164139.3:c.1827+15dup	ENSP00000164139.3:n.1827+15dup
ENST00000377432.7:c.1563+15dup	ENSP00000366650.3:n.1563+15dup
ENST00000462303.1:n.151+15dup
NM_001164716.1:c.1563+15dup	NP_001158188.1:n.1563+15dup
NM_005609.2:c.1827+15dup	NP_005600.1:n.1827+15dup
NM_005609.3:c.1827+15dup	NP_005600.1:n.1827+15dup
NM_005609.4:c.1827+15dup MANE Select	NP_005600.1:n.1827+15dup