Canonical Allele Identifier: CA2584900984
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502814-A-AGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502815_38502816insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , CM000681.2:g.38502815_38502816insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG GRCh38
NC_000019.9:g.38993455_38993456insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , CM000681.1:g.38993455_38993456insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG GRCh37
NC_000019.8:g.43685295_43685296insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG NCBI36
NG_008866.1:g.74116_74117insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , LRG_766:g.74116_74117insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG ENSP00000471601.2:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000359596.8:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG MANE Select ENSP00000352608.2:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000355481.8:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG ENSP00000347667.3:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000359596.7:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG ENSP00000352608.2:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000360985.7:c.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG ENSP00000354254.4:n.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000594335.5:c.1288-65_1288-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
NM_000540.2:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , LRG_766t1:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG NP_000531.2:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCA...
NM_001042723.1:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG NP_001036188.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723317.1:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG XP_006723380.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723319.1:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG XP_006723382.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527204.1:c.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG XP_011525506.1:n.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527205.1:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG XP_011525507.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723317.2:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG XP_006723380.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723319.2:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG XP_006723382.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527205.2:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG XP_011525507.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XR_001753735.1:n.7919-65_7919-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
NM_000540.3:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG MANE Select NP_000531.2:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCA...
NM_001042723.2:c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG NP_001036188.1:n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGG...
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