Canonical Allele Identifier: CA2586290341
Gene: GYS1 HGNC NCBI

Linked Data

gnomAD v4: 19-48974722-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974725del , CM000681.2:g.48974725del GRCh38
NC_000019.9:g.49477982del , CM000681.1:g.49477982del GRCh37
NC_000019.8:g.54169794del NCBI36
NG_012923.1:g.23631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1319del MANE Select ENSP00000317904.3:p.Phe440SerfsTer18
ENST00000263276.6:c.1127del ENSP00000263276.6:p.Phe376SerfsTer18
ENST00000323798.7:c.1319del ENSP00000317904.3:p.Phe440SerfsTer18
ENST00000472004.5:n.74del
ENST00000496048.1:n.226del
NM_001161587.1:c.1127del NP_001155059.1:p.Phe376SerfsTer18
NM_002103.4:c.1319del NP_002094.2:p.Phe440SerfsTer18
NR_027763.1:n.1378del
NM_002103.5:c.1319del MANE Select NP_002094.2:p.Phe440SerfsTer18
NM_001161587.2:c.1127del NP_001155059.1:p.Phe376SerfsTer18
NR_027763.2:n.1334del
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