Canonical Allele Identifier: CA2584900923
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502807-G-GGGGAGGAGCAGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502818_38502819insTGGGAGGAGCAG , CM000681.2:g.38502818_38502819insTGGGAGGAGCAG GRCh38
NC_000019.9:g.38993458_38993459insTGGGAGGAGCAG , CM000681.1:g.38993458_38993459insTGGGAGGAGCAG GRCh37
NC_000019.8:g.43685298_43685299insTGGGAGGAGCAG NCBI36
NG_008866.1:g.74119_74120insTGGGAGGAGCAG , LRG_766:g.74119_74120insTGGGAGGAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-62_7836-61insTGGGAGGAGCAG ENSP00000471601.2:n.7836-62_7836-61insTGGGAGGAGCAG
ENST00000359596.8:c.7836-62_7836-61insTGGGAGGAGCAG MANE Select ENSP00000352608.2:n.7836-62_7836-61insTGGGAGGAGCAG
ENST00000355481.8:c.7836-62_7836-61insTGGGAGGAGCAG ENSP00000347667.3:n.7836-62_7836-61insTGGGAGGAGCAG
ENST00000359596.7:c.7836-62_7836-61insTGGGAGGAGCAG ENSP00000352608.2:n.7836-62_7836-61insTGGGAGGAGCAG
ENST00000360985.7:c.7833-62_7833-61insTGGGAGGAGCAG ENSP00000354254.4:n.7833-62_7833-61insTGGGAGGAGCAG
ENST00000594335.5:c.1288-62_1288-61insTGGGAGGAGCAG
NM_000540.2:c.7836-62_7836-61insTGGGAGGAGCAG , LRG_766t1:c.7836-62_7836-61insTGGGAGGAGCAG NP_000531.2:n.7836-62_7836-61insTGGGAGGAGCAG
NM_001042723.1:c.7836-62_7836-61insTGGGAGGAGCAG NP_001036188.1:n.7836-62_7836-61insTGGGAGGAGCAG
XM_006723317.1:c.7836-62_7836-61insTGGGAGGAGCAG XP_006723380.1:n.7836-62_7836-61insTGGGAGGAGCAG
XM_006723319.1:c.7836-62_7836-61insTGGGAGGAGCAG XP_006723382.1:n.7836-62_7836-61insTGGGAGGAGCAG
XM_011527204.1:c.7833-62_7833-61insTGGGAGGAGCAG XP_011525506.1:n.7833-62_7833-61insTGGGAGGAGCAG
XM_011527205.1:c.7836-62_7836-61insTGGGAGGAGCAG XP_011525507.1:n.7836-62_7836-61insTGGGAGGAGCAG
XM_006723317.2:c.7836-62_7836-61insTGGGAGGAGCAG XP_006723380.1:n.7836-62_7836-61insTGGGAGGAGCAG
XM_006723319.2:c.7836-62_7836-61insTGGGAGGAGCAG XP_006723382.1:n.7836-62_7836-61insTGGGAGGAGCAG
XM_011527205.2:c.7836-62_7836-61insTGGGAGGAGCAG XP_011525507.1:n.7836-62_7836-61insTGGGAGGAGCAG
XR_001753735.1:n.7919-62_7919-61insTGGGAGGAGCAG
NM_000540.3:c.7836-62_7836-61insTGGGAGGAGCAG MANE Select NP_000531.2:n.7836-62_7836-61insTGGGAGGAGCAG
NM_001042723.2:c.7836-62_7836-61insTGGGAGGAGCAG NP_001036188.1:n.7836-62_7836-61insTGGGAGGAGCAG
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