Canonical Allele Identifier: CA1978929632
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058420194
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759659_64759660insA , CM000673.2:g.64759659_64759660insA GRCh38
NC_000011.9:g.64527131_64527132insA , CM000673.1:g.64527131_64527132insA GRCh37
NC_000011.8:g.64283707_64283708insA NCBI36
NG_013018.1:g.6056_6057insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.239_240insT MANE Select ENSP00000164139.3:p.Lys81GlnfsTer30
ENST00000164139.3:c.239_240insT ENSP00000164139.3:p.Lys81GlnfsTer30
ENST00000377432.7:c.239_240insT ENSP00000366650.3:p.Lys81GlnfsTer14
NM_001164716.1:c.239_240insT NP_001158188.1:p.Lys81GlnfsTer14
NM_005609.2:c.239_240insT NP_005600.1:p.Lys81GlnfsTer30
NM_005609.3:c.239_240insT NP_005600.1:p.Lys81GlnfsTer30
NM_005609.4:c.239_240insT MANE Select NP_005600.1:p.Lys81GlnfsTer30
Search 100 bp 5'
Search 100 bp 3'