Canonical Allele Identifier: CA2335054569
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502774_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG , CM000681.2:g.38502774_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG GRCh38
NC_000019.9:g.38993414_38993450delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG , CM000681.1:g.38993414_38993450delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG GRCh37
NC_000019.8:g.43685254_43685290delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG NCBI36
NG_008866.1:g.74075_74111delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG , LRG_766:g.74075_74111delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG ENSP00000471601.2:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCA...
ENST00000359596.8:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG MANE Select ENSP00000352608.2:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCA...
ENST00000355481.8:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG ENSP00000347667.3:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCA...
ENST00000359596.7:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG ENSP00000352608.2:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCA...
ENST00000360985.7:c.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG ENSP00000354254.4:n.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCA...
ENST00000594335.5:c.1287+47_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
NM_000540.2:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG , LRG_766t1:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG NP_000531.2:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCA...
NM_001042723.1:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG NP_001036188.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XM_006723317.1:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG XP_006723380.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XM_006723319.1:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG XP_006723382.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XM_011527204.1:c.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG XP_011525506.1:n.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XM_011527205.1:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG XP_011525507.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XM_006723317.2:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG XP_006723380.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XM_006723319.2:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG XP_006723382.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XM_011527205.2:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG XP_011525507.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
XR_001753735.1:n.7918+47_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
NM_000540.3:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG MANE Select NP_000531.2:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCA...
NM_001042723.2:c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG NP_001036188.1:n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGG...
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