Canonical Allele Identifier: CA2576771049
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499153_38499156del , CM000681.2:g.38499153_38499156del GRCh38
NC_000019.9:g.38989793_38989796del , CM000681.1:g.38989793_38989796del GRCh37
NC_000019.8:g.43681633_43681636del NCBI36
NG_008866.1:g.70454_70457del , LRG_766:g.70454_70457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6937_6940del ENSP00000471601.2:p.Leu2313TrpfsTer?
ENST00000359596.8:c.6937_6940del MANE Select ENSP00000352608.2:p.Leu2313TrpfsTer?
ENST00000355481.8:c.6937_6940del ENSP00000347667.3:p.Leu2313TrpfsTer?
ENST00000359596.7:c.6937_6940del ENSP00000352608.2:p.Leu2313TrpfsTer?
ENST00000360985.7:c.6934_6937del ENSP00000354254.4:p.Leu2312TrpfsTer?
ENST00000594335.5:c.389_392del
NM_000540.2:c.6937_6940del , LRG_766t1:c.6937_6940del NP_000531.2:p.Leu2313TrpfsTer?
NM_001042723.1:c.6937_6940del NP_001036188.1:p.Leu2313TrpfsTer?
XM_006723317.1:c.6937_6940del XP_006723380.1:p.Leu2313TrpfsTer?
XM_006723319.1:c.6937_6940del XP_006723382.1:p.Leu2313TrpfsTer?
XM_011527204.1:c.6934_6937del XP_011525506.1:p.Leu2312TrpfsTer?
XM_011527205.1:c.6937_6940del XP_011525507.1:p.Leu2313TrpfsTer?
XM_006723317.2:c.6937_6940del XP_006723380.1:p.Leu2313TrpfsTer?
XM_006723319.2:c.6937_6940del XP_006723382.1:p.Leu2313TrpfsTer?
XM_011527205.2:c.6937_6940del XP_011525507.1:p.Leu2313TrpfsTer?
XR_001753735.1:n.7020_7023del
NM_000540.3:c.6937_6940del MANE Select NP_000531.2:p.Leu2313TrpfsTer?
NM_001042723.2:c.6937_6940del NP_001036188.1:p.Leu2313TrpfsTer?
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