Canonical Allele Identifier: CA2814346223
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565416del , CM000681.2:g.38565416del GRCh38
NC_000019.9:g.39056056del , CM000681.1:g.39056056del GRCh37
NC_000019.8:g.43747896del NCBI36
NG_008866.1:g.136717del , LRG_766:g.136717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.18del
ENST00000688602.1:c.1492del
ENST00000689936.1:c.1474del
ENST00000359596.8:c.13082del MANE Select ENSP00000352608.2:p.Ser4361CysfsTer14
ENST00000355481.8:c.13067del ENSP00000347667.3:p.Ser4356CysfsTer14
ENST00000359596.7:c.13082del ENSP00000352608.2:p.Ser4361CysfsTer14
ENST00000360985.7:c.13064del ENSP00000354254.4:p.Ser4355CysfsTer14
NM_000540.2:c.13082del , LRG_766t1:c.13082del NP_000531.2:p.Ser4361CysfsTer14
NM_001042723.1:c.13067del NP_001036188.1:p.Ser4356CysfsTer14
XM_006723317.1:c.13064del XP_006723380.1:p.Ser4355CysfsTer14
XM_006723319.1:c.13049del XP_006723382.1:p.Ser4350CysfsTer14
XM_011527204.1:c.13079del XP_011525506.1:p.Ser4360CysfsTer14
XM_011527205.1:c.13082del XP_011525507.1:p.Ser4361CysfsTer14
XM_006723317.2:c.13064del XP_006723380.1:p.Ser4355CysfsTer14
XM_006723319.2:c.13049del XP_006723382.1:p.Ser4350CysfsTer14
XM_011527205.2:c.13082del XP_011525507.1:p.Ser4361CysfsTer14
NM_000540.3:c.13082del MANE Select NP_000531.2:p.Ser4361CysfsTer14
NM_001042723.2:c.13067del NP_001036188.1:p.Ser4356CysfsTer14