Canonical Allele Identifier: CA2584900964
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502813-G-GGGGAGGGGGAGGGGGAGGGGCAGGGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502813_38502814insGGGAGGGGGAGGGGGAGGGGCAGGGGC , CM000681.2:g.38502813_38502814insGGGAGGGGGAGGGGGAGGGGCAGGGGC GRCh38
NC_000019.9:g.38993453_38993454insGGGAGGGGGAGGGGGAGGGGCAGGGGC , CM000681.1:g.38993453_38993454insGGGAGGGGGAGGGGGAGGGGCAGGGGC GRCh37
NC_000019.8:g.43685293_43685294insGGGAGGGGGAGGGGGAGGGGCAGGGGC NCBI36
NG_008866.1:g.74114_74115insGGGAGGGGGAGGGGGAGGGGCAGGGGC , LRG_766:g.74114_74115insGGGAGGGGGAGGGGGAGGGGCAGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC ENSP00000471601.2:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAG...
ENST00000359596.8:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC MANE Select ENSP00000352608.2:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAG...
ENST00000355481.8:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC ENSP00000347667.3:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAG...
ENST00000359596.7:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC ENSP00000352608.2:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAG...
ENST00000360985.7:c.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC ENSP00000354254.4:n.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAG...
ENST00000594335.5:c.1288-67_1288-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC
NM_000540.2:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC , LRG_766t1:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC NP_000531.2:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC
NM_001042723.1:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC NP_001036188.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XM_006723317.1:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC XP_006723380.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XM_006723319.1:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC XP_006723382.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XM_011527204.1:c.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC XP_011525506.1:n.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XM_011527205.1:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC XP_011525507.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XM_006723317.2:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC XP_006723380.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XM_006723319.2:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC XP_006723382.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XM_011527205.2:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC XP_011525507.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
XR_001753735.1:n.7919-67_7919-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC
NM_000540.3:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC MANE Select NP_000531.2:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC
NM_001042723.2:c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC NP_001036188.1:n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGG...
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