Canonical Allele Identifier: CA2584900889
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502804-C-CAGGGGCAGGGGGAGGGGGAAGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502809_38502810insCAGGGGGAGGGGGAAGGGGGAGGGG , CM000681.2:g.38502809_38502810insCAGGGGGAGGGGGAAGGGGGAGGGG GRCh38
NC_000019.9:g.38993449_38993450insCAGGGGGAGGGGGAAGGGGGAGGGG , CM000681.1:g.38993449_38993450insCAGGGGGAGGGGGAAGGGGGAGGGG GRCh37
NC_000019.8:g.43685289_43685290insCAGGGGGAGGGGGAAGGGGGAGGGG NCBI36
NG_008866.1:g.74110_74111insCAGGGGGAGGGGGAAGGGGGAGGGG , LRG_766:g.74110_74111insCAGGGGGAGGGGGAAGGGGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG ENSP00000471601.2:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGG...
ENST00000359596.8:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG MANE Select ENSP00000352608.2:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGG...
ENST00000355481.8:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG ENSP00000347667.3:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGG...
ENST00000359596.7:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG ENSP00000352608.2:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGG...
ENST00000360985.7:c.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGGGG ENSP00000354254.4:n.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGG...
ENST00000594335.5:c.1288-71_1288-70insCAGGGGGAGGGGGAAGGGGGAGGGG
NM_000540.2:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG , LRG_766t1:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG NP_000531.2:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
NM_001042723.1:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG NP_001036188.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XM_006723317.1:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG XP_006723380.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XM_006723319.1:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG XP_006723382.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XM_011527204.1:c.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGGGG XP_011525506.1:n.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XM_011527205.1:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG XP_011525507.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XM_006723317.2:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG XP_006723380.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XM_006723319.2:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG XP_006723382.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XM_011527205.2:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG XP_011525507.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
XR_001753735.1:n.7919-71_7919-70insCAGGGGGAGGGGGAAGGGGGAGGGG
NM_000540.3:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG MANE Select NP_000531.2:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
NM_001042723.2:c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG NP_001036188.1:n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG
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