Canonical Allele Identifier: CA2584900595
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502567-CTGCCGCTCATCACCAAGTG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502571_38502589del , CM000681.2:g.38502571_38502589del GRCh38
NC_000019.9:g.38993211_38993229del , CM000681.1:g.38993211_38993229del GRCh37
NC_000019.8:g.43685051_43685069del NCBI36
NG_008866.1:g.73872_73890del , LRG_766:g.73872_73890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7679_7697del ENSP00000471601.2:p.Pro2560ArgfsTer?
ENST00000359596.8:c.7679_7697del MANE Select ENSP00000352608.2:p.Pro2560ArgfsTer?
ENST00000355481.8:c.7679_7697del ENSP00000347667.3:p.Pro2560ArgfsTer?
ENST00000359596.7:c.7679_7697del ENSP00000352608.2:p.Pro2560ArgfsTer?
ENST00000360985.7:c.7676_7694del ENSP00000354254.4:p.Pro2559ArgfsTer?
ENST00000594335.5:c.1131_1149del
NM_000540.2:c.7679_7697del , LRG_766t1:c.7679_7697del NP_000531.2:p.Pro2560ArgfsTer?
NM_001042723.1:c.7679_7697del NP_001036188.1:p.Pro2560ArgfsTer?
XM_006723317.1:c.7679_7697del XP_006723380.1:p.Pro2560ArgfsTer?
XM_006723319.1:c.7679_7697del XP_006723382.1:p.Pro2560ArgfsTer?
XM_011527204.1:c.7676_7694del XP_011525506.1:p.Pro2559ArgfsTer?
XM_011527205.1:c.7679_7697del XP_011525507.1:p.Pro2560ArgfsTer?
XM_006723317.2:c.7679_7697del XP_006723380.1:p.Pro2560ArgfsTer?
XM_006723319.2:c.7679_7697del XP_006723382.1:p.Pro2560ArgfsTer?
XM_011527205.2:c.7679_7697del XP_011525507.1:p.Pro2560ArgfsTer?
XR_001753735.1:n.7762_7780del
NM_000540.3:c.7679_7697del MANE Select NP_000531.2:p.Pro2560ArgfsTer?
NM_001042723.2:c.7679_7697del NP_001036188.1:p.Pro2560ArgfsTer?
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