Canonical Allele Identifier: CA1978930171

Gene: PYGM

Linked Data

• dbSNP Id: rs2058424023

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759952_64759960del , CM000673.2:g.64759952_64759960del	GRCh38
NC_000011.9:g.64527424_64527432del , CM000673.1:g.64527424_64527432del	GRCh37
NC_000011.8:g.64284000_64284008del	NCBI36
NG_013018.1:g.5757_5765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-61_-53del MANE Select	ENSP00000164139.3:n.-61_-53del
ENST00000164139.3:c.-61_-53del	ENSP00000164139.3:n.-61_-53del
ENST00000377432.7:c.-61_-53del	ENSP00000366650.3:n.-61_-53del
NM_001164716.1:c.-61_-53del	NP_001158188.1:n.-61_-53del
NM_005609.2:c.-61_-53del	NP_005600.1:n.-61_-53del
NM_005609.3:c.-61_-53del	NP_005600.1:n.-61_-53del
NM_005609.4:c.-61_-53del MANE Select	NP_005600.1:n.-61_-53del