Canonical Allele Identifier: CA2335054554
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1970213980
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502779_38502780insTAGGGGCAGGGG , CM000681.2:g.38502779_38502780insTAGGGGCAGGGG GRCh38
NC_000019.9:g.38993419_38993420insTAGGGGCAGGGG , CM000681.1:g.38993419_38993420insTAGGGGCAGGGG GRCh37
NC_000019.8:g.43685259_43685260insTAGGGGCAGGGG NCBI36
NG_008866.1:g.74080_74081insTAGGGGCAGGGG , LRG_766:g.74080_74081insTAGGGGCAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+52_7835+53insTAGGGGCAGGGG ENSP00000471601.2:n.7835+52_7835+53insTAGGGGCAGGGG
ENST00000359596.8:c.7835+52_7835+53insTAGGGGCAGGGG MANE Select ENSP00000352608.2:n.7835+52_7835+53insTAGGGGCAGGGG
ENST00000355481.8:c.7835+52_7835+53insTAGGGGCAGGGG ENSP00000347667.3:n.7835+52_7835+53insTAGGGGCAGGGG
ENST00000359596.7:c.7835+52_7835+53insTAGGGGCAGGGG ENSP00000352608.2:n.7835+52_7835+53insTAGGGGCAGGGG
ENST00000360985.7:c.7832+52_7832+53insTAGGGGCAGGGG ENSP00000354254.4:n.7832+52_7832+53insTAGGGGCAGGGG
ENST00000594335.5:c.1287+52_1287+53insTAGGGGCAGGGG
NM_000540.2:c.7835+52_7835+53insTAGGGGCAGGGG , LRG_766t1:c.7835+52_7835+53insTAGGGGCAGGGG NP_000531.2:n.7835+52_7835+53insTAGGGGCAGGGG
NM_001042723.1:c.7835+52_7835+53insTAGGGGCAGGGG NP_001036188.1:n.7835+52_7835+53insTAGGGGCAGGGG
XM_006723317.1:c.7835+52_7835+53insTAGGGGCAGGGG XP_006723380.1:n.7835+52_7835+53insTAGGGGCAGGGG
XM_006723319.1:c.7835+52_7835+53insTAGGGGCAGGGG XP_006723382.1:n.7835+52_7835+53insTAGGGGCAGGGG
XM_011527204.1:c.7832+52_7832+53insTAGGGGCAGGGG XP_011525506.1:n.7832+52_7832+53insTAGGGGCAGGGG
XM_011527205.1:c.7835+52_7835+53insTAGGGGCAGGGG XP_011525507.1:n.7835+52_7835+53insTAGGGGCAGGGG
XM_006723317.2:c.7835+52_7835+53insTAGGGGCAGGGG XP_006723380.1:n.7835+52_7835+53insTAGGGGCAGGGG
XM_006723319.2:c.7835+52_7835+53insTAGGGGCAGGGG XP_006723382.1:n.7835+52_7835+53insTAGGGGCAGGGG
XM_011527205.2:c.7835+52_7835+53insTAGGGGCAGGGG XP_011525507.1:n.7835+52_7835+53insTAGGGGCAGGGG
XR_001753735.1:n.7918+52_7918+53insTAGGGGCAGGGG
NM_000540.3:c.7835+52_7835+53insTAGGGGCAGGGG MANE Select NP_000531.2:n.7835+52_7835+53insTAGGGGCAGGGG
NM_001042723.2:c.7835+52_7835+53insTAGGGGCAGGGG NP_001036188.1:n.7835+52_7835+53insTAGGGGCAGGGG
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