Canonical Allele Identifier: CA995717830
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1568506375
gnomAD v3: 19-38502774-C-CAGGGGCAGGGGCAGGGGCAGGGGTAGGGGT
gnomAD v4: 19-38502774-C-CAGGGGCAGGGGCAGGGGCAGGGGTAGGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502797_38502798insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG , CM000681.2:g.38502797_38502798insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG GRCh38
NC_000019.9:g.38993437_38993438insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG , CM000681.1:g.38993437_38993438insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG GRCh37
NC_000019.8:g.43685277_43685278insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG NCBI36
NG_008866.1:g.74098_74099insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG , LRG_766:g.74098_74099insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG ENSP00000471601.2:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGG...
ENST00000359596.8:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG MANE Select ENSP00000352608.2:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGG...
ENST00000355481.8:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG ENSP00000347667.3:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGG...
ENST00000359596.7:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG ENSP00000352608.2:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGG...
ENST00000360985.7:c.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG ENSP00000354254.4:n.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGG...
ENST00000594335.5:c.1287+70_1287+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.2:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG , LRG_766t1:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG NP_000531.2:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGG...
NM_001042723.1:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG NP_001036188.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XM_006723317.1:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG XP_006723380.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XM_006723319.1:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG XP_006723382.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XM_011527204.1:c.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG XP_011525506.1:n.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XM_011527205.1:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG XP_011525507.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XM_006723317.2:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG XP_006723380.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XM_006723319.2:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG XP_006723382.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XM_011527205.2:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG XP_011525507.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
XR_001753735.1:n.7918+70_7918+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
NM_000540.3:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG MANE Select NP_000531.2:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGG...
NM_001042723.2:c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG NP_001036188.1:n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCA...
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