Canonical Allele Identifier: CA2573054761
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs2145888166
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577931_38577932del , CM000681.2:g.38577931_38577932del GRCh38
NC_000019.9:g.39068571_39068572del , CM000681.1:g.39068571_39068572del GRCh37
NC_000019.8:g.43760411_43760412del NCBI36
NG_008866.1:g.149232_149233del , LRG_766:g.149232_149233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1122_1123del
ENST00000688602.1:c.2519_2520del
ENST00000689936.1:c.2491_2492del
ENST00000359596.8:c.14186_14187del MANE Select ENSP00000352608.2:p.His4729ArgfsTer11
ENST00000355481.8:c.14171_14172del ENSP00000347667.3:p.His4724ArgfsTer11
ENST00000359596.7:c.14186_14187del ENSP00000352608.2:p.His4729ArgfsTer11
ENST00000360985.7:c.14168_14169del ENSP00000354254.4:p.His4723ArgfsTer11
NM_000540.2:c.14186_14187del , LRG_766t1:c.14186_14187del NP_000531.2:p.His4729ArgfsTer11
NM_001042723.1:c.14171_14172del NP_001036188.1:p.His4724ArgfsTer11
XM_006723317.1:c.14168_14169del XP_006723380.1:p.His4723ArgfsTer11
XM_006723319.1:c.14153_14154del XP_006723382.1:p.His4718ArgfsTer11
XM_011527204.1:c.14183_14184del XP_011525506.1:p.His4728ArgfsTer11
XM_011527205.1:c.14099_14100del XP_011525507.1:p.His4700ArgfsTer11
XM_006723317.2:c.14168_14169del XP_006723380.1:p.His4723ArgfsTer11
XM_006723319.2:c.14153_14154del XP_006723382.1:p.His4718ArgfsTer11
XM_011527205.2:c.14099_14100del XP_011525507.1:p.His4700ArgfsTer11
NM_000540.3:c.14186_14187del MANE Select NP_000531.2:p.His4729ArgfsTer11
NM_001042723.2:c.14171_14172del NP_001036188.1:p.His4724ArgfsTer11
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