Canonical Allele Identifier: CA2335096030
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38587174_38587267delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT , CM000681.2:g.38587174_38587267delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT GRCh38
NC_000019.9:g.39077814_39077907delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT , CM000681.1:g.39077814_39077907delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT GRCh37
NC_000019.8:g.43769654_43769747delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT NCBI36
NG_008866.1:g.158475_158568delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT , LRG_766:g.158475_158568delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1957+598_1957+691delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT
ENST00000688602.1:c.3355-151_3355-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT
ENST00000689936.1:c.3327-151_3327-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT
ENST00000692547.1:n.415-151_415-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT
ENST00000359596.8:c.15022-151_15022-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT MANE Select ENSP00000352608.2:n.15022-151_15022-58delinsGCTTGAGCCAGGAGGCT...
ENST00000355481.8:c.15007-151_15007-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT ENSP00000347667.3:n.15007-151_15007-58delinsGCTTGAGCCAGGAGGCT...
ENST00000359596.7:c.15022-151_15022-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT ENSP00000352608.2:n.15022-151_15022-58delinsGCTTGAGCCAGGAGGCT...
ENST00000360985.7:c.15004-151_15004-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT ENSP00000354254.4:n.15004-151_15004-58delinsGCTTGAGCCAGGAGGCT...
NM_000540.2:c.15022-151_15022-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT , LRG_766t1:c.15022-151_15022-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT NP_000531.2:n.15022-151_15022-58delinsGCTTGAGCCAGGAGGCTGTAGTG...
NM_001042723.1:c.15007-151_15007-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT NP_001036188.1:n.15007-151_15007-58delinsGCTTGAGCCAGGAGGCTGTA...
XM_006723317.1:c.15004-151_15004-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT XP_006723380.1:n.15004-151_15004-58delinsGCTTGAGCCAGGAGGCTGTA...
XM_006723319.1:c.14989-151_14989-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT XP_006723382.1:n.14989-151_14989-58delinsGCTTGAGCCAGGAGGCTGTA...
XM_011527204.1:c.15019-151_15019-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT XP_011525506.1:n.15019-151_15019-58delinsGCTTGAGCCAGGAGGCTGTA...
XM_011527205.1:c.14935-151_14935-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT XP_011525507.1:n.14935-151_14935-58delinsGCTTGAGCCAGGAGGCTGTA...
XM_006723317.2:c.15004-151_15004-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT XP_006723380.1:n.15004-151_15004-58delinsGCTTGAGCCAGGAGGCTGTA...
XM_006723319.2:c.14989-151_14989-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT XP_006723382.1:n.14989-151_14989-58delinsGCTTGAGCCAGGAGGCTGTA...
XM_011527205.2:c.14935-151_14935-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT XP_011525507.1:n.14935-151_14935-58delinsGCTTGAGCCAGGAGGCTGTA...
NM_000540.3:c.15022-151_15022-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT MANE Select NP_000531.2:n.15022-151_15022-58delinsGCTTGAGCCAGGAGGCTGTAGTG...
NM_001042723.2:c.15007-151_15007-58delinsGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGATTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATAT NP_001036188.1:n.15007-151_15007-58delinsGCTTGAGCCAGGAGGCTGTA...