Canonical Allele Identifier: CA024679
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133180
dbSNP Id: rs121918596

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499649_38499651del , CM000681.2:g.38499649_38499651del GRCh38
NC_000019.9:g.38990289_38990291del , CM000681.1:g.38990289_38990291del GRCh37
NC_000019.8:g.43682129_43682131del NCBI36
NG_008866.1:g.70950_70952del , LRG_766:g.70950_70952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7042_7044del ENSP00000471601.2:p.Glu2348del
ENST00000359596.8:c.7042_7044del MANE Select ENSP00000352608.2:p.Glu2348del
ENST00000355481.8:c.7042_7044del ENSP00000347667.3:p.Glu2348del
ENST00000359596.7:c.7042_7044del ENSP00000352608.2:p.Glu2348del
ENST00000360985.7:c.7039_7041del ENSP00000354254.4:p.Glu2347del
ENST00000594335.5:c.494_496del
NM_000540.2:c.7042_7044del , LRG_766t1:c.7042_7044del NP_000531.2:p.Glu2348del
NM_001042723.1:c.7042_7044del NP_001036188.1:p.Glu2348del
XM_006723317.1:c.7042_7044del XP_006723380.1:p.Glu2348del
XM_006723319.1:c.7042_7044del XP_006723382.1:p.Glu2348del
XM_011527204.1:c.7039_7041del XP_011525506.1:p.Glu2347del
XM_011527205.1:c.7042_7044del XP_011525507.1:p.Glu2348del
XM_006723317.2:c.7042_7044del XP_006723380.1:p.Glu2348del
XM_006723319.2:c.7042_7044del XP_006723382.1:p.Glu2348del
XM_011527205.2:c.7042_7044del XP_011525507.1:p.Glu2348del
XR_001753735.1:n.7125_7127del
NM_000540.3:c.7042_7044del MANE Select NP_000531.2:p.Glu2348del
NM_001042723.2:c.7042_7044del NP_001036188.1:p.Glu2348del