Canonical Allele Identifier: CA2580097246
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433048
ClinVar RCV Id: RCV003133829
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578179_38578180del , CM000681.2:g.38578179_38578180del GRCh38
NC_000019.9:g.39068819_39068820del , CM000681.1:g.39068819_39068820del GRCh37
NC_000019.8:g.43760659_43760660del NCBI36
NG_008866.1:g.149480_149481del , LRG_766:g.149480_149481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1275_1276del
ENST00000688602.1:c.2672_2673del
ENST00000689936.1:c.2644_2645del
ENST00000359596.8:c.14339_14340del MANE Select ENSP00000352608.2:p.Lys4780IlefsTer?
ENST00000355481.8:c.14324_14325del ENSP00000347667.3:p.Lys4775IlefsTer?
ENST00000359596.7:c.14339_14340del ENSP00000352608.2:p.Lys4780IlefsTer?
ENST00000360985.7:c.14321_14322del ENSP00000354254.4:p.Lys4774IlefsTer?
NM_000540.2:c.14339_14340del , LRG_766t1:c.14339_14340del NP_000531.2:p.Lys4780IlefsTer?
NM_001042723.1:c.14324_14325del NP_001036188.1:p.Lys4775IlefsTer?
XM_006723317.1:c.14321_14322del XP_006723380.1:p.Lys4774IlefsTer?
XM_006723319.1:c.14306_14307del XP_006723382.1:p.Lys4769IlefsTer?
XM_011527204.1:c.14336_14337del XP_011525506.1:p.Lys4779IlefsTer?
XM_011527205.1:c.14252_14253del XP_011525507.1:p.Lys4751IlefsTer?
XM_006723317.2:c.14321_14322del XP_006723380.1:p.Lys4774IlefsTer?
XM_006723319.2:c.14306_14307del XP_006723382.1:p.Lys4769IlefsTer?
XM_011527205.2:c.14252_14253del XP_011525507.1:p.Lys4751IlefsTer?
NM_000540.3:c.14339_14340del MANE Select NP_000531.2:p.Lys4780IlefsTer?
NM_001042723.2:c.14324_14325del NP_001036188.1:p.Lys4775IlefsTer?
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