Canonical Allele Identifier: CA2584898017
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38485828-AGCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485834_38485836del , CM000681.2:g.38485834_38485836del GRCh38
NC_000019.9:g.38976474_38976476del , CM000681.1:g.38976474_38976476del GRCh37
NC_000019.8:g.43668314_43668316del NCBI36
NG_008866.1:g.57135_57137del , LRG_766:g.57135_57137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5179_5181del ENSP00000471601.2:p.Arg1727del
ENST00000359596.8:c.5179_5181del MANE Select ENSP00000352608.2:p.Arg1727del
ENST00000355481.8:c.5179_5181del ENSP00000347667.3:p.Arg1727del
ENST00000359596.7:c.5179_5181del ENSP00000352608.2:p.Arg1727del
ENST00000360985.7:c.5176_5178del ENSP00000354254.4:p.Arg1726del
NM_000540.2:c.5179_5181del , LRG_766t1:c.5179_5181del NP_000531.2:p.Arg1727del
NM_001042723.1:c.5179_5181del NP_001036188.1:p.Arg1727del
XM_006723317.1:c.5179_5181del XP_006723380.1:p.Arg1727del
XM_006723319.1:c.5179_5181del XP_006723382.1:p.Arg1727del
XM_011527204.1:c.5176_5178del XP_011525506.1:p.Arg1726del
XM_011527205.1:c.5179_5181del XP_011525507.1:p.Arg1727del
XM_006723317.2:c.5179_5181del XP_006723380.1:p.Arg1727del
XM_006723319.2:c.5179_5181del XP_006723382.1:p.Arg1727del
XM_011527205.2:c.5179_5181del XP_011525507.1:p.Arg1727del
XR_001753735.1:n.5262_5264del
NM_000540.3:c.5179_5181del MANE Select NP_000531.2:p.Arg1727del
NM_001042723.2:c.5179_5181del NP_001036188.1:p.Arg1727del
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