Canonical Allele Identifier: CA2580084410
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2089768
ClinVar RCV Id: RCV003003236
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747254_64747261del , CM000673.2:g.64747254_64747261del GRCh38
NC_000011.9:g.64514726_64514733del , CM000673.1:g.64514726_64514733del GRCh37
NC_000011.8:g.64271302_64271309del NCBI36
NG_007574.1:g.3196_3203del , LRG_100:g.3196_3203del
NG_013018.1:g.18455_18462del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2275_2282del MANE Select ENSP00000164139.3:p.Phe759HisfsTer9
ENST00000164139.3:c.2275_2282del ENSP00000164139.3:p.Phe759HisfsTer9
ENST00000377432.7:c.2011_2018del ENSP00000366650.3:p.Phe671HisfsTer9
ENST00000483742.1:n.1628_1635del
NM_001164716.1:c.2011_2018del NP_001158188.1:p.Phe671HisfsTer9
NM_005609.2:c.2275_2282del NP_005600.1:p.Phe759HisfsTer9
NM_005609.3:c.2275_2282del NP_005600.1:p.Phe759HisfsTer9
NM_005609.4:c.2275_2282del MANE Select NP_005600.1:p.Phe759HisfsTer9
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