Canonical Allele Identifier: CA2574865625
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2741853
ClinVar RCV Id: RCV003497578
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758289_64758290del , CM000673.2:g.64758289_64758290del GRCh38
NC_000011.9:g.64525761_64525762del , CM000673.1:g.64525761_64525762del GRCh37
NC_000011.8:g.64282337_64282338del NCBI36
NG_013018.1:g.7427_7428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.485_486del MANE Select ENSP00000164139.3:p.Tyr162Ter
ENST00000164139.3:c.485_486del ENSP00000164139.3:p.Tyr162Ter
ENST00000377432.7:c.244-23_244-22del ENSP00000366650.3:n.244-23_244-22del
NM_001164716.1:c.244-23_244-22del NP_001158188.1:n.244-23_244-22del
NM_005609.2:c.485_486del NP_005600.1:p.Tyr162Ter
NM_005609.3:c.485_486del NP_005600.1:p.Tyr162Ter
NM_005609.4:c.485_486del MANE Select NP_005600.1:p.Tyr162Ter
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