Canonical Allele Identifier: CA2614191303
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64758766-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758769del , CM000673.2:g.64758769del GRCh38
NC_000011.9:g.64526241del , CM000673.1:g.64526241del GRCh37
NC_000011.8:g.64282817del NCBI36
NG_013018.1:g.6949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.244-63del MANE Select ENSP00000164139.3:n.244-63del
ENST00000164139.3:c.244-63del ENSP00000164139.3:n.244-63del
ENST00000377432.7:c.244-501del ENSP00000366650.3:n.244-501del
NM_001164716.1:c.244-501del NP_001158188.1:n.244-501del
NM_005609.2:c.244-63del NP_005600.1:n.244-63del
NM_005609.3:c.244-63del NP_005600.1:n.244-63del
NM_005609.4:c.244-63del MANE Select NP_005600.1:n.244-63del
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Search 100 bp 3'