Canonical Allele Identifier: CA081116
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577930_38577931del , CM000681.2:g.38577930_38577931del GRCh38
NC_000019.9:g.39068570_39068571del , CM000681.1:g.39068570_39068571del GRCh37
NC_000019.8:g.43760410_43760411del NCBI36
NG_008866.1:g.149231_149232del , LRG_766:g.149231_149232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1121_1122del
ENST00000688602.1:c.2518_2519del
ENST00000689936.1:c.2490_2491del
ENST00000359596.8:c.14185_14186del MANE Select ENSP00000352608.2:p.His4729TrpfsTer11
ENST00000355481.8:c.14170_14171del ENSP00000347667.3:p.His4724TrpfsTer11
ENST00000359596.7:c.14185_14186del ENSP00000352608.2:p.His4729TrpfsTer11
ENST00000360985.7:c.14167_14168del ENSP00000354254.4:p.His4723TrpfsTer11
NM_000540.2:c.14185_14186del , LRG_766t1:c.14185_14186del NP_000531.2:p.His4729TrpfsTer11
NM_001042723.1:c.14170_14171del NP_001036188.1:p.His4724TrpfsTer11
XM_006723317.1:c.14167_14168del XP_006723380.1:p.His4723TrpfsTer11
XM_006723319.1:c.14152_14153del XP_006723382.1:p.His4718TrpfsTer11
XM_011527204.1:c.14182_14183del XP_011525506.1:p.His4728TrpfsTer11
XM_011527205.1:c.14098_14099del XP_011525507.1:p.His4700TrpfsTer11
XM_006723317.2:c.14167_14168del XP_006723380.1:p.His4723TrpfsTer11
XM_006723319.2:c.14152_14153del XP_006723382.1:p.His4718TrpfsTer11
XM_011527205.2:c.14098_14099del XP_011525507.1:p.His4700TrpfsTer11
NM_000540.3:c.14185_14186del MANE Select NP_000531.2:p.His4729TrpfsTer11
NM_001042723.2:c.14170_14171del NP_001036188.1:p.His4724TrpfsTer11
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