Canonical Allele Identifier: CA2839790398
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751456_64751457del , CM000673.2:g.64751456_64751457del GRCh38
NC_000011.9:g.64518928_64518929del , CM000673.1:g.64518928_64518929del GRCh37
NC_000011.8:g.64275504_64275505del NCBI36
NG_013018.1:g.14260_14261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1838_1839del MANE Select ENSP00000164139.3:p.Gly613ValfsTer21
ENST00000164139.3:c.1838_1839del ENSP00000164139.3:p.Gly613ValfsTer21
ENST00000377432.7:c.1574_1575del ENSP00000366650.3:p.Gly525ValfsTer21
ENST00000462303.1:n.162_163del
NM_001164716.1:c.1574_1575del NP_001158188.1:p.Gly525ValfsTer21
NM_005609.2:c.1838_1839del NP_005600.1:p.Gly613ValfsTer21
NM_005609.3:c.1838_1839del NP_005600.1:p.Gly613ValfsTer21
NM_005609.4:c.1838_1839del MANE Select NP_005600.1:p.Gly613ValfsTer21
Search 100 bp 5'
Search 100 bp 3'