Canonical Allele Identifier: CA2335054604
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502788_38502814delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA , CM000681.2:g.38502788_38502814delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA GRCh38
NC_000019.9:g.38993428_38993454delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA , CM000681.1:g.38993428_38993454delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA GRCh37
NC_000019.8:g.43685268_43685294delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA NCBI36
NG_008866.1:g.74089_74115delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA , LRG_766:g.74089_74115delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA ENSP00000471601.2:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000359596.8:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA MANE Select ENSP00000352608.2:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000355481.8:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA ENSP00000347667.3:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000359596.7:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA ENSP00000352608.2:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000360985.7:c.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA ENSP00000354254.4:n.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGG...
ENST00000594335.5:c.1287+61_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA
NM_000540.2:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA , LRG_766t1:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA NP_000531.2:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGG...
NM_001042723.1:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA NP_001036188.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XM_006723317.1:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA XP_006723380.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XM_006723319.1:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA XP_006723382.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XM_011527204.1:c.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA XP_011525506.1:n.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XM_011527205.1:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA XP_011525507.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XM_006723317.2:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA XP_006723380.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XM_006723319.2:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA XP_006723382.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XM_011527205.2:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA XP_011525507.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
XR_001753735.1:n.7918+61_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA
NM_000540.3:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA MANE Select NP_000531.2:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGG...
NM_001042723.2:c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA NP_001036188.1:n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGG...
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