Canonical Allele Identifier: CA2335054750
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502842_38502843delinsTG , CM000681.2:g.38502842_38502843delinsTG GRCh38
NC_000019.9:g.38993482_38993483delinsTG , CM000681.1:g.38993482_38993483delinsTG GRCh37
NC_000019.8:g.43685322_43685323delinsTG NCBI36
NG_008866.1:g.74143_74144delinsTG , LRG_766:g.74143_74144delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-38_7836-37delinsTG ENSP00000471601.2:n.7836-38_7836-37delinsTG
ENST00000359596.8:c.7836-38_7836-37delinsTG MANE Select ENSP00000352608.2:n.7836-38_7836-37delinsTG
ENST00000355481.8:c.7836-38_7836-37delinsTG ENSP00000347667.3:n.7836-38_7836-37delinsTG
ENST00000359596.7:c.7836-38_7836-37delinsTG ENSP00000352608.2:n.7836-38_7836-37delinsTG
ENST00000360985.7:c.7833-38_7833-37delinsTG ENSP00000354254.4:n.7833-38_7833-37delinsTG
ENST00000594335.5:c.1288-38_1288-37delinsTG
NM_000540.2:c.7836-38_7836-37delinsTG , LRG_766t1:c.7836-38_7836-37delinsTG NP_000531.2:n.7836-38_7836-37delinsTG
NM_001042723.1:c.7836-38_7836-37delinsTG NP_001036188.1:n.7836-38_7836-37delinsTG
XM_006723317.1:c.7836-38_7836-37delinsTG XP_006723380.1:n.7836-38_7836-37delinsTG
XM_006723319.1:c.7836-38_7836-37delinsTG XP_006723382.1:n.7836-38_7836-37delinsTG
XM_011527204.1:c.7833-38_7833-37delinsTG XP_011525506.1:n.7833-38_7833-37delinsTG
XM_011527205.1:c.7836-38_7836-37delinsTG XP_011525507.1:n.7836-38_7836-37delinsTG
XM_006723317.2:c.7836-38_7836-37delinsTG XP_006723380.1:n.7836-38_7836-37delinsTG
XM_006723319.2:c.7836-38_7836-37delinsTG XP_006723382.1:n.7836-38_7836-37delinsTG
XM_011527205.2:c.7836-38_7836-37delinsTG XP_011525507.1:n.7836-38_7836-37delinsTG
XR_001753735.1:n.7919-38_7919-37delinsTG
NM_000540.3:c.7836-38_7836-37delinsTG MANE Select NP_000531.2:n.7836-38_7836-37delinsTG
NM_001042723.2:c.7836-38_7836-37delinsTG NP_001036188.1:n.7836-38_7836-37delinsTG
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