Canonical Allele Identifier: CA2586290342
Gene: GYS1 HGNC NCBI

Linked Data

gnomAD v4: 19-48974728-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974729del , CM000681.2:g.48974729del GRCh38
NC_000019.9:g.49477986del , CM000681.1:g.49477986del GRCh37
NC_000019.8:g.54169798del NCBI36
NG_012923.1:g.23625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1313del MANE Select ENSP00000317904.3:p.Gln438ArgfsTer20
ENST00000263276.6:c.1121del ENSP00000263276.6:p.Gln374ArgfsTer20
ENST00000323798.7:c.1313del ENSP00000317904.3:p.Gln438ArgfsTer20
ENST00000472004.5:n.68del
ENST00000496048.1:n.220del
NM_001161587.1:c.1121del NP_001155059.1:p.Gln374ArgfsTer20
NM_002103.4:c.1313del NP_002094.2:p.Gln438ArgfsTer20
NR_027763.1:n.1372del
NM_002103.5:c.1313del MANE Select NP_002094.2:p.Gln438ArgfsTer20
NM_001161587.2:c.1121del NP_001155059.1:p.Gln374ArgfsTer20
NR_027763.2:n.1328del
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