Canonical Allele Identifier: CA2814347345
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG , CM000681.2:g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG GRCh38
NC_000019.9:g.38993470_38993471insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG , CM000681.1:g.38993470_38993471insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG GRCh37
NC_000019.8:g.43685310_43685311insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG NCBI36
NG_008866.1:g.74131_74132insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG , LRG_766:g.74131_74132insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG ENSP00000471601.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000359596.8:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG MANE Select ENSP00000352608.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000355481.8:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG ENSP00000347667.3:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000359596.7:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG ENSP00000352608.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000360985.7:c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG ENSP00000354254.4:n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000594335.5:c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG
NM_000540.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG , LRG_766t1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG NP_000531.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCA...
NM_001042723.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG NP_001036188.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723317.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG XP_006723380.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723319.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG XP_006723382.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527204.1:c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG XP_011525506.1:n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527205.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG XP_011525507.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723317.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG XP_006723380.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723319.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG XP_006723382.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527205.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG XP_011525507.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XR_001753735.1:n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG
NM_000540.3:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG MANE Select NP_000531.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCA...
NM_001042723.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG NP_001036188.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...