Canonical Allele Identifier: CA2584910696
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38577999-ACAGCCCACAATGAGCGCAAGCCCAAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578001_38578026del , CM000681.2:g.38578001_38578026del GRCh38
NC_000019.9:g.39068641_39068666del , CM000681.1:g.39068641_39068666del GRCh37
NC_000019.8:g.43760481_43760506del NCBI36
NG_008866.1:g.149302_149327del , LRG_766:g.149302_149327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1192_1217del
ENST00000688602.1:c.2589_2614del
ENST00000689936.1:c.2561_2586del
ENST00000359596.8:c.14256_14281del MANE Select ENSP00000352608.2:p.His4754AlafsTer?
ENST00000355481.8:c.14241_14266del ENSP00000347667.3:p.His4749AlafsTer?
ENST00000359596.7:c.14256_14281del ENSP00000352608.2:p.His4754AlafsTer?
ENST00000360985.7:c.14238_14263del ENSP00000354254.4:p.His4748AlafsTer?
NM_000540.2:c.14256_14281del , LRG_766t1:c.14256_14281del NP_000531.2:p.His4754AlafsTer?
NM_001042723.1:c.14241_14266del NP_001036188.1:p.His4749AlafsTer?
XM_006723317.1:c.14238_14263del XP_006723380.1:p.His4748AlafsTer?
XM_006723319.1:c.14223_14248del XP_006723382.1:p.His4743AlafsTer?
XM_011527204.1:c.14253_14278del XP_011525506.1:p.His4753AlafsTer?
XM_011527205.1:c.14169_14194del XP_011525507.1:p.His4725AlafsTer?
XM_006723317.2:c.14238_14263del XP_006723380.1:p.His4748AlafsTer?
XM_006723319.2:c.14223_14248del XP_006723382.1:p.His4743AlafsTer?
XM_011527205.2:c.14169_14194del XP_011525507.1:p.His4725AlafsTer?
NM_000540.3:c.14256_14281del MANE Select NP_000531.2:p.His4754AlafsTer?
NM_001042723.2:c.14241_14266del NP_001036188.1:p.His4749AlafsTer?
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