Canonical Allele Identifier: CA2825002783
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074503
ClinVar RCV Id: RCV004014037
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485995del , CM000681.2:g.38485995del GRCh38
NC_000019.9:g.38976635del , CM000681.1:g.38976635del GRCh37
NC_000019.8:g.43668475del NCBI36
NG_008866.1:g.57296del , LRG_766:g.57296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5340del ENSP00000471601.2:p.Cys1781ValfsTer?
ENST00000359596.8:c.5340del MANE Select ENSP00000352608.2:p.Cys1781ValfsTer?
ENST00000355481.8:c.5340del ENSP00000347667.3:p.Cys1781ValfsTer?
ENST00000359596.7:c.5340del ENSP00000352608.2:p.Cys1781ValfsTer?
ENST00000360985.7:c.5337del ENSP00000354254.4:p.Cys1780ValfsTer?
NM_000540.2:c.5340del , LRG_766t1:c.5340del NP_000531.2:p.Cys1781ValfsTer?
NM_001042723.1:c.5340del NP_001036188.1:p.Cys1781ValfsTer?
XM_006723317.1:c.5340del XP_006723380.1:p.Cys1781ValfsTer?
XM_006723319.1:c.5340del XP_006723382.1:p.Cys1781ValfsTer?
XM_011527204.1:c.5337del XP_011525506.1:p.Cys1780ValfsTer?
XM_011527205.1:c.5340del XP_011525507.1:p.Cys1781ValfsTer?
XM_006723317.2:c.5340del XP_006723380.1:p.Cys1781ValfsTer?
XM_006723319.2:c.5340del XP_006723382.1:p.Cys1781ValfsTer?
XM_011527205.2:c.5340del XP_011525507.1:p.Cys1781ValfsTer?
XR_001753735.1:n.5423del
NM_000540.3:c.5340del MANE Select NP_000531.2:p.Cys1781ValfsTer?
NM_001042723.2:c.5340del NP_001036188.1:p.Cys1781ValfsTer?
Search 100 bp 5'
Search 100 bp 3'