Canonical Allele Identifier: CA2584898022
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38486045-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38486047del , CM000681.2:g.38486047del GRCh38
NC_000019.9:g.38976687del , CM000681.1:g.38976687del GRCh37
NC_000019.8:g.43668527del NCBI36
NG_008866.1:g.57348del , LRG_766:g.57348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5392del ENSP00000471601.2:p.Leu1798SerfsTer15
ENST00000359596.8:c.5392del MANE Select ENSP00000352608.2:p.Leu1798SerfsTer15
ENST00000355481.8:c.5392del ENSP00000347667.3:p.Leu1798SerfsTer15
ENST00000359596.7:c.5392del ENSP00000352608.2:p.Leu1798SerfsTer15
ENST00000360985.7:c.5389del ENSP00000354254.4:p.Leu1797SerfsTer15
NM_000540.2:c.5392del , LRG_766t1:c.5392del NP_000531.2:p.Leu1798SerfsTer15
NM_001042723.1:c.5392del NP_001036188.1:p.Leu1798SerfsTer15
XM_006723317.1:c.5392del XP_006723380.1:p.Leu1798SerfsTer15
XM_006723319.1:c.5392del XP_006723382.1:p.Leu1798SerfsTer15
XM_011527204.1:c.5389del XP_011525506.1:p.Leu1797SerfsTer15
XM_011527205.1:c.5392del XP_011525507.1:p.Leu1798SerfsTer15
XM_006723317.2:c.5392del XP_006723380.1:p.Leu1798SerfsTer15
XM_006723319.2:c.5392del XP_006723382.1:p.Leu1798SerfsTer15
XM_011527205.2:c.5392del XP_011525507.1:p.Leu1798SerfsTer15
XR_001753735.1:n.5475del
NM_000540.3:c.5392del MANE Select NP_000531.2:p.Leu1798SerfsTer15
NM_001042723.2:c.5392del NP_001036188.1:p.Leu1798SerfsTer15
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