Canonical Allele Identifier: CA2697548638

Gene: PYGM

Linked Data

• ClinVar Variation Id: 2768366
• ClinVar RCV Id: RCV003499348

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753518dup , CM000673.2:g.64753518dup	GRCh38
NC_000011.9:g.64520990dup , CM000673.1:g.64520990dup	GRCh37
NC_000011.8:g.64277566dup	NCBI36
NG_013018.1:g.12198dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+1dup MANE Select	ENSP00000164139.3:n.1403+1dup
ENST00000164139.3:c.1403+1dup	ENSP00000164139.3:n.1403+1dup
ENST00000377432.7:c.1139+1dup	ENSP00000366650.3:n.1139+1dup
NM_001164716.1:c.1139+1dup	NP_001158188.1:n.1139+1dup
NM_005609.2:c.1403+1dup	NP_005600.1:n.1403+1dup
NM_005609.3:c.1403+1dup	NP_005600.1:n.1403+1dup
NM_005609.4:c.1403+1dup MANE Select	NP_005600.1:n.1403+1dup