Canonical Allele Identifier: CA2580084888
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1912740
ClinVar RCV Id: RCV002608155
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759690_64759692del , CM000673.2:g.64759690_64759692del GRCh38
NC_000011.9:g.64527162_64527164del , CM000673.1:g.64527162_64527164del GRCh37
NC_000011.8:g.64283738_64283740del NCBI36
NG_013018.1:g.6025_6027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.208_210del MANE Select ENSP00000164139.3:p.Arg70del
ENST00000164139.3:c.208_210del ENSP00000164139.3:p.Arg70del
ENST00000377432.7:c.208_210del ENSP00000366650.3:p.Arg70del
NM_001164716.1:c.208_210del NP_001158188.1:p.Arg70del
NM_005609.2:c.208_210del NP_005600.1:p.Arg70del
NM_005609.3:c.208_210del NP_005600.1:p.Arg70del
NM_005609.4:c.208_210del MANE Select NP_005600.1:p.Arg70del
Search 100 bp 5'
Search 100 bp 3'