Canonical Allele Identifier: CA2584900816
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502793-A-AGGGGCAGGGGCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502804_38502805insCGGGGCAGGGGC , CM000681.2:g.38502804_38502805insCGGGGCAGGGGC GRCh38
NC_000019.9:g.38993444_38993445insCGGGGCAGGGGC , CM000681.1:g.38993444_38993445insCGGGGCAGGGGC GRCh37
NC_000019.8:g.43685284_43685285insCGGGGCAGGGGC NCBI36
NG_008866.1:g.74105_74106insCGGGGCAGGGGC , LRG_766:g.74105_74106insCGGGGCAGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-76_7836-75insCGGGGCAGGGGC ENSP00000471601.2:n.7836-76_7836-75insCGGGGCAGGGGC
ENST00000359596.8:c.7836-76_7836-75insCGGGGCAGGGGC MANE Select ENSP00000352608.2:n.7836-76_7836-75insCGGGGCAGGGGC
ENST00000355481.8:c.7836-76_7836-75insCGGGGCAGGGGC ENSP00000347667.3:n.7836-76_7836-75insCGGGGCAGGGGC
ENST00000359596.7:c.7836-76_7836-75insCGGGGCAGGGGC ENSP00000352608.2:n.7836-76_7836-75insCGGGGCAGGGGC
ENST00000360985.7:c.7833-76_7833-75insCGGGGCAGGGGC ENSP00000354254.4:n.7833-76_7833-75insCGGGGCAGGGGC
ENST00000594335.5:c.1288-76_1288-75insCGGGGCAGGGGC
NM_000540.2:c.7836-76_7836-75insCGGGGCAGGGGC , LRG_766t1:c.7836-76_7836-75insCGGGGCAGGGGC NP_000531.2:n.7836-76_7836-75insCGGGGCAGGGGC
NM_001042723.1:c.7836-76_7836-75insCGGGGCAGGGGC NP_001036188.1:n.7836-76_7836-75insCGGGGCAGGGGC
XM_006723317.1:c.7836-76_7836-75insCGGGGCAGGGGC XP_006723380.1:n.7836-76_7836-75insCGGGGCAGGGGC
XM_006723319.1:c.7836-76_7836-75insCGGGGCAGGGGC XP_006723382.1:n.7836-76_7836-75insCGGGGCAGGGGC
XM_011527204.1:c.7833-76_7833-75insCGGGGCAGGGGC XP_011525506.1:n.7833-76_7833-75insCGGGGCAGGGGC
XM_011527205.1:c.7836-76_7836-75insCGGGGCAGGGGC XP_011525507.1:n.7836-76_7836-75insCGGGGCAGGGGC
XM_006723317.2:c.7836-76_7836-75insCGGGGCAGGGGC XP_006723380.1:n.7836-76_7836-75insCGGGGCAGGGGC
XM_006723319.2:c.7836-76_7836-75insCGGGGCAGGGGC XP_006723382.1:n.7836-76_7836-75insCGGGGCAGGGGC
XM_011527205.2:c.7836-76_7836-75insCGGGGCAGGGGC XP_011525507.1:n.7836-76_7836-75insCGGGGCAGGGGC
XR_001753735.1:n.7919-76_7919-75insCGGGGCAGGGGC
NM_000540.3:c.7836-76_7836-75insCGGGGCAGGGGC MANE Select NP_000531.2:n.7836-76_7836-75insCGGGGCAGGGGC
NM_001042723.2:c.7836-76_7836-75insCGGGGCAGGGGC NP_001036188.1:n.7836-76_7836-75insCGGGGCAGGGGC
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