Canonical Allele Identifier: CA2335054704
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1970241379
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502820_38502821insTCAGGG , CM000681.2:g.38502820_38502821insTCAGGG GRCh38
NC_000019.9:g.38993460_38993461insTCAGGG , CM000681.1:g.38993460_38993461insTCAGGG GRCh37
NC_000019.8:g.43685300_43685301insTCAGGG NCBI36
NG_008866.1:g.74121_74122insTCAGGG , LRG_766:g.74121_74122insTCAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-60_7836-59insTCAGGG ENSP00000471601.2:n.7836-60_7836-59insTCAGGG
ENST00000359596.8:c.7836-60_7836-59insTCAGGG MANE Select ENSP00000352608.2:n.7836-60_7836-59insTCAGGG
ENST00000355481.8:c.7836-60_7836-59insTCAGGG ENSP00000347667.3:n.7836-60_7836-59insTCAGGG
ENST00000359596.7:c.7836-60_7836-59insTCAGGG ENSP00000352608.2:n.7836-60_7836-59insTCAGGG
ENST00000360985.7:c.7833-60_7833-59insTCAGGG ENSP00000354254.4:n.7833-60_7833-59insTCAGGG
ENST00000594335.5:c.1288-60_1288-59insTCAGGG
NM_000540.2:c.7836-60_7836-59insTCAGGG , LRG_766t1:c.7836-60_7836-59insTCAGGG NP_000531.2:n.7836-60_7836-59insTCAGGG
NM_001042723.1:c.7836-60_7836-59insTCAGGG NP_001036188.1:n.7836-60_7836-59insTCAGGG
XM_006723317.1:c.7836-60_7836-59insTCAGGG XP_006723380.1:n.7836-60_7836-59insTCAGGG
XM_006723319.1:c.7836-60_7836-59insTCAGGG XP_006723382.1:n.7836-60_7836-59insTCAGGG
XM_011527204.1:c.7833-60_7833-59insTCAGGG XP_011525506.1:n.7833-60_7833-59insTCAGGG
XM_011527205.1:c.7836-60_7836-59insTCAGGG XP_011525507.1:n.7836-60_7836-59insTCAGGG
XM_006723317.2:c.7836-60_7836-59insTCAGGG XP_006723380.1:n.7836-60_7836-59insTCAGGG
XM_006723319.2:c.7836-60_7836-59insTCAGGG XP_006723382.1:n.7836-60_7836-59insTCAGGG
XM_011527205.2:c.7836-60_7836-59insTCAGGG XP_011525507.1:n.7836-60_7836-59insTCAGGG
XR_001753735.1:n.7919-60_7919-59insTCAGGG
NM_000540.3:c.7836-60_7836-59insTCAGGG MANE Select NP_000531.2:n.7836-60_7836-59insTCAGGG
NM_001042723.2:c.7836-60_7836-59insTCAGGG NP_001036188.1:n.7836-60_7836-59insTCAGGG
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