Canonical Allele Identifier: CA1978929650

Gene: PYGM

Linked Data

• dbSNP Id: rs2058420315

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759666_64759667del , CM000673.2:g.64759666_64759667del	GRCh38
NC_000011.9:g.64527138_64527139del , CM000673.1:g.64527138_64527139del	GRCh37
NC_000011.8:g.64283714_64283715del	NCBI36
NG_013018.1:g.6049_6050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.232_233del MANE Select	ENSP00000164139.3:p.Lys78GlyfsTer?
ENST00000164139.3:c.232_233del	ENSP00000164139.3:p.Lys78GlyfsTer?
ENST00000377432.7:c.232_233del	ENSP00000366650.3:p.Lys78GlyfsTer16
NM_001164716.1:c.232_233del	NP_001158188.1:p.Lys78GlyfsTer16
NM_005609.2:c.232_233del	NP_005600.1:p.Lys78GlyfsTer?
NM_005609.3:c.232_233del	NP_005600.1:p.Lys78GlyfsTer?
NM_005609.4:c.232_233del MANE Select	NP_005600.1:p.Lys78GlyfsTer?