Canonical Allele Identifier: CA2584900997
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502816-C-CAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG , CM000681.2:g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG GRCh38
NC_000019.9:g.38993461_38993462insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG , CM000681.1:g.38993461_38993462insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG GRCh37
NC_000019.8:g.43685301_43685302insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG NCBI36
NG_008866.1:g.74122_74123insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG , LRG_766:g.74122_74123insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG ENSP00000471601.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000359596.8:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG MANE Select ENSP00000352608.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000355481.8:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG ENSP00000347667.3:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000359596.7:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG ENSP00000352608.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000360985.7:c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG ENSP00000354254.4:n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000594335.5:c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
NM_000540.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG , LRG_766t1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG NP_000531.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGG...
NM_001042723.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG NP_001036188.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723317.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG XP_006723380.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723319.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG XP_006723382.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_011527204.1:c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG XP_011525506.1:n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_011527205.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG XP_011525507.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723317.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG XP_006723380.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723319.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG XP_006723382.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_011527205.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG XP_011525507.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XR_001753735.1:n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
NM_000540.3:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG MANE Select NP_000531.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGG...
NM_001042723.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG NP_001036188.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
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