Canonical Allele Identifier: CA995718186
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1568506676
gnomAD v3: 19-38502798-C-CAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGG
gnomAD v4: 19-38502798-C-CAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG , CM000681.2:g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG GRCh38
NC_000019.9:g.38993449_38993450insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG , CM000681.1:g.38993449_38993450insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG GRCh37
NC_000019.8:g.43685289_43685290insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG NCBI36
NG_008866.1:g.74110_74111insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG , LRG_766:g.74110_74111insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG ENSP00000471601.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGG...
ENST00000359596.8:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG MANE Select ENSP00000352608.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGG...
ENST00000355481.8:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG ENSP00000347667.3:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGG...
ENST00000359596.7:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG ENSP00000352608.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGG...
ENST00000360985.7:c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG ENSP00000354254.4:n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGG...
ENST00000594335.5:c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG
NM_000540.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG , LRG_766t1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG NP_000531.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGG...
NM_001042723.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG NP_001036188.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XM_006723317.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG XP_006723380.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XM_006723319.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG XP_006723382.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XM_011527204.1:c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG XP_011525506.1:n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XM_011527205.1:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG XP_011525507.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XM_006723317.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG XP_006723380.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XM_006723319.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG XP_006723382.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XM_011527205.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG XP_011525507.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
XR_001753735.1:n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG
NM_000540.3:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG MANE Select NP_000531.2:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGG...
NM_001042723.2:c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG NP_001036188.1:n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGA...
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