Canonical Allele Identifier: CA2576844866
Gene: GYS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974732del , CM000681.2:g.48974732del GRCh38
NC_000019.9:g.49477989del , CM000681.1:g.49477989del GRCh37
NC_000019.8:g.54169801del NCBI36
NG_012923.1:g.23623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1311del MANE Select ENSP00000317904.3:p.Gln438SerfsTer20
ENST00000263276.6:c.1119del ENSP00000263276.6:p.Gln374SerfsTer20
ENST00000323798.7:c.1311del ENSP00000317904.3:p.Gln438SerfsTer20
ENST00000472004.5:n.66del
ENST00000496048.1:n.218del
NM_001161587.1:c.1119del NP_001155059.1:p.Gln374SerfsTer20
NM_002103.4:c.1311del NP_002094.2:p.Gln438SerfsTer20
NR_027763.1:n.1370del
NM_002103.5:c.1311del MANE Select NP_002094.2:p.Gln438SerfsTer20
NM_001161587.2:c.1119del NP_001155059.1:p.Gln374SerfsTer20
NR_027763.2:n.1326del
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