Canonical Allele Identifier: CA2814347331
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502827_38502828insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG , CM000681.2:g.38502827_38502828insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG GRCh38
NC_000019.9:g.38993467_38993468insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG , CM000681.1:g.38993467_38993468insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG GRCh37
NC_000019.8:g.43685307_43685308insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG NCBI36
NG_008866.1:g.74128_74129insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG , LRG_766:g.74128_74129insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG ENSP00000471601.2:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGG...
ENST00000359596.8:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG MANE Select ENSP00000352608.2:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGG...
ENST00000355481.8:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG ENSP00000347667.3:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGG...
ENST00000359596.7:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG ENSP00000352608.2:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGG...
ENST00000360985.7:c.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG ENSP00000354254.4:n.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGG...
ENST00000594335.5:c.1288-53_1288-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
NM_000540.2:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG , LRG_766t1:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG NP_000531.2:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGG...
NM_001042723.1:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG NP_001036188.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XM_006723317.1:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG XP_006723380.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XM_006723319.1:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG XP_006723382.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XM_011527204.1:c.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG XP_011525506.1:n.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XM_011527205.1:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG XP_011525507.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XM_006723317.2:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG XP_006723380.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XM_006723319.2:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG XP_006723382.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XM_011527205.2:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG XP_011525507.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
XR_001753735.1:n.7919-53_7919-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
NM_000540.3:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG MANE Select NP_000531.2:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGG...
NM_001042723.2:c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG NP_001036188.1:n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGA...
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