Canonical Allele Identifier: CA2584901053
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502822-C-CAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG , CM000681.2:g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG GRCh38
NC_000019.9:g.38993470_38993471insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG , CM000681.1:g.38993470_38993471insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG GRCh37
NC_000019.8:g.43685310_43685311insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG NCBI36
NG_008866.1:g.74131_74132insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG , LRG_766:g.74131_74132insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG ENSP00000471601.2:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGA...
ENST00000359596.8:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG MANE Select ENSP00000352608.2:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGA...
ENST00000355481.8:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG ENSP00000347667.3:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGA...
ENST00000359596.7:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG ENSP00000352608.2:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGA...
ENST00000360985.7:c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG ENSP00000354254.4:n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGA...
ENST00000594335.5:c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG
NM_000540.2:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG , LRG_766t1:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG NP_000531.2:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGA...
NM_001042723.1:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG NP_001036188.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XM_006723317.1:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG XP_006723380.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XM_006723319.1:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG XP_006723382.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XM_011527204.1:c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG XP_011525506.1:n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XM_011527205.1:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG XP_011525507.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XM_006723317.2:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG XP_006723380.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XM_006723319.2:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG XP_006723382.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XM_011527205.2:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG XP_011525507.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
XR_001753735.1:n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG
NM_000540.3:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG MANE Select NP_000531.2:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGA...
NM_001042723.2:c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG NP_001036188.1:n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGG...
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