Canonical Allele Identifier: CA2697556508
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2748503
ClinVar RCV Id: RCV003591364

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565509_38565519del , CM000681.2:g.38565509_38565519del GRCh38
NC_000019.9:g.39056149_39056159del , CM000681.1:g.39056149_39056159del GRCh37
NC_000019.8:g.43747989_43747999del NCBI36
NG_008866.1:g.136810_136820del , LRG_766:g.136810_136820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.111_121del
ENST00000688602.1:c.1585_1595del
ENST00000689936.1:c.1567_1577del
ENST00000359596.8:c.13175_13185del MANE Select ENSP00000352608.2:p.His4392ProfsTer?
ENST00000355481.8:c.13160_13170del ENSP00000347667.3:p.His4387ProfsTer?
ENST00000359596.7:c.13175_13185del ENSP00000352608.2:p.His4392ProfsTer?
ENST00000360985.7:c.13157_13167del ENSP00000354254.4:p.His4386ProfsTer?
NM_000540.2:c.13175_13185del , LRG_766t1:c.13175_13185del NP_000531.2:p.His4392ProfsTer?
NM_001042723.1:c.13160_13170del NP_001036188.1:p.His4387ProfsTer?
XM_006723317.1:c.13157_13167del XP_006723380.1:p.His4386ProfsTer?
XM_006723319.1:c.13142_13152del XP_006723382.1:p.His4381ProfsTer?
XM_011527204.1:c.13172_13182del XP_011525506.1:p.His4391ProfsTer?
XM_011527205.1:c.13175_13185del XP_011525507.1:p.His4392ProfsTer?
XM_006723317.2:c.13157_13167del XP_006723380.1:p.His4386ProfsTer?
XM_006723319.2:c.13142_13152del XP_006723382.1:p.His4381ProfsTer?
XM_011527205.2:c.13175_13185del XP_011525507.1:p.His4392ProfsTer?
NM_000540.3:c.13175_13185del MANE Select NP_000531.2:p.His4392ProfsTer?
NM_001042723.2:c.13160_13170del NP_001036188.1:p.His4387ProfsTer?