Canonical Allele Identifier: CA2614192117
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64759944-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759945del , CM000673.2:g.64759945del GRCh38
NC_000011.9:g.64527417del , CM000673.1:g.64527417del GRCh37
NC_000011.8:g.64283993del NCBI36
NG_013018.1:g.5771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-47del MANE Select ENSP00000164139.3:n.-47del
ENST00000164139.3:c.-47del ENSP00000164139.3:n.-47del
ENST00000377432.7:c.-47del ENSP00000366650.3:n.-47del
NM_001164716.1:c.-47del NP_001158188.1:n.-47del
NM_005609.2:c.-47del NP_005600.1:n.-47del
NM_005609.3:c.-47del NP_005600.1:n.-47del
NM_005609.4:c.-47del MANE Select NP_005600.1:n.-47del
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