Canonical Allele Identifier: CA2814347342
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG , CM000681.2:g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG GRCh38
NC_000019.9:g.38993467_38993468insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG , CM000681.1:g.38993467_38993468insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG GRCh37
NC_000019.8:g.43685307_43685308insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG NCBI36
NG_008866.1:g.74128_74129insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG , LRG_766:g.74128_74129insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG

Transcript Alleles

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