Canonical Allele Identifier: CA2584901009
Gene: RYR1 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502816_38502817insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG , CM000681.2:g.38502816_38502817insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG GRCh38
NC_000019.9:g.38993456_38993457insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG , CM000681.1:g.38993456_38993457insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG GRCh37
NC_000019.8:g.43685296_43685297insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG NCBI36
NG_008866.1:g.74117_74118insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG , LRG_766:g.74117_74118insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG ENSP00000471601.2:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGC...
ENST00000359596.8:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG MANE Select ENSP00000352608.2:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGC...
ENST00000355481.8:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG ENSP00000347667.3:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGC...
ENST00000359596.7:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG ENSP00000352608.2:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGC...
ENST00000360985.7:c.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG ENSP00000354254.4:n.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGC...
ENST00000594335.5:c.1288-64_1288-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG
NM_000540.2:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG , LRG_766t1:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG NP_000531.2:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGG...
NM_001042723.1:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG NP_001036188.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XM_006723317.1:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG XP_006723380.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XM_006723319.1:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG XP_006723382.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XM_011527204.1:c.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG XP_011525506.1:n.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XM_011527205.1:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG XP_011525507.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XM_006723317.2:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG XP_006723380.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XM_006723319.2:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG XP_006723382.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XM_011527205.2:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG XP_011525507.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
XR_001753735.1:n.7919-64_7919-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG
NM_000540.3:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG MANE Select NP_000531.2:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGG...
NM_001042723.2:c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG NP_001036188.1:n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGG...
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