Canonical Allele Identifier: CA2584900836
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502798-C-CAGCAGAGCAGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502800_38502801insCAGAGCAGGGGGAG , CM000681.2:g.38502800_38502801insCAGAGCAGGGGGAG GRCh38
NC_000019.9:g.38993440_38993441insCAGAGCAGGGGGAG , CM000681.1:g.38993440_38993441insCAGAGCAGGGGGAG GRCh37
NC_000019.8:g.43685280_43685281insCAGAGCAGGGGGAG NCBI36
NG_008866.1:g.74101_74102insCAGAGCAGGGGGAG , LRG_766:g.74101_74102insCAGAGCAGGGGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+73_7835+74insCAGAGCAGGGGGAG ENSP00000471601.2:n.7835+73_7835+74insCAGAGCAGGGGGAG
ENST00000359596.8:c.7835+73_7835+74insCAGAGCAGGGGGAG MANE Select ENSP00000352608.2:n.7835+73_7835+74insCAGAGCAGGGGGAG
ENST00000355481.8:c.7835+73_7835+74insCAGAGCAGGGGGAG ENSP00000347667.3:n.7835+73_7835+74insCAGAGCAGGGGGAG
ENST00000359596.7:c.7835+73_7835+74insCAGAGCAGGGGGAG ENSP00000352608.2:n.7835+73_7835+74insCAGAGCAGGGGGAG
ENST00000360985.7:c.7832+73_7832+74insCAGAGCAGGGGGAG ENSP00000354254.4:n.7832+73_7832+74insCAGAGCAGGGGGAG
ENST00000594335.5:c.1287+73_1287+74insCAGAGCAGGGGGAG
NM_000540.2:c.7835+73_7835+74insCAGAGCAGGGGGAG , LRG_766t1:c.7835+73_7835+74insCAGAGCAGGGGGAG NP_000531.2:n.7835+73_7835+74insCAGAGCAGGGGGAG
NM_001042723.1:c.7835+73_7835+74insCAGAGCAGGGGGAG NP_001036188.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
XM_006723317.1:c.7835+73_7835+74insCAGAGCAGGGGGAG XP_006723380.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
XM_006723319.1:c.7835+73_7835+74insCAGAGCAGGGGGAG XP_006723382.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
XM_011527204.1:c.7832+73_7832+74insCAGAGCAGGGGGAG XP_011525506.1:n.7832+73_7832+74insCAGAGCAGGGGGAG
XM_011527205.1:c.7835+73_7835+74insCAGAGCAGGGGGAG XP_011525507.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
XM_006723317.2:c.7835+73_7835+74insCAGAGCAGGGGGAG XP_006723380.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
XM_006723319.2:c.7835+73_7835+74insCAGAGCAGGGGGAG XP_006723382.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
XM_011527205.2:c.7835+73_7835+74insCAGAGCAGGGGGAG XP_011525507.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
XR_001753735.1:n.7918+73_7918+74insCAGAGCAGGGGGAG
NM_000540.3:c.7835+73_7835+74insCAGAGCAGGGGGAG MANE Select NP_000531.2:n.7835+73_7835+74insCAGAGCAGGGGGAG
NM_001042723.2:c.7835+73_7835+74insCAGAGCAGGGGGAG NP_001036188.1:n.7835+73_7835+74insCAGAGCAGGGGGAG
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