Canonical Allele Identifier: CA2584901055
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG , CM000681.2:g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG GRCh38
NC_000019.9:g.38993467_38993468insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG , CM000681.1:g.38993467_38993468insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG GRCh37
NC_000019.8:g.43685307_43685308insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG NCBI36
NG_008866.1:g.74128_74129insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG , LRG_766:g.74128_74129insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG

Transcript Alleles

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