Canonical Allele Identifier: CA2335092466
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580417_38580420delinsCGTG , CM000681.2:g.38580417_38580420delinsCGTG GRCh38
NC_000019.9:g.39071057_39071060delinsCGTG , CM000681.1:g.39071057_39071060delinsCGTG GRCh37
NC_000019.8:g.43762897_43762900delinsCGTG NCBI36
NG_008866.1:g.151718_151721delinsCGTG , LRG_766:g.151718_151721delinsCGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1495_1498delinsCGTG
ENST00000688602.1:c.2892_2895delinsCGTG
ENST00000689936.1:c.2864_2867delinsCGTG
ENST00000359596.8:c.14559_14562delinsCGTG MANE Select ENSP00000352608.2:p.Thr4853=
ENST00000355481.8:c.14544_14547delinsCGTG ENSP00000347667.3:p.Thr4848=
ENST00000359596.7:c.14559_14562delinsCGTG ENSP00000352608.2:p.Thr4853=
ENST00000360985.7:c.14541_14544delinsCGTG ENSP00000354254.4:p.Thr4847=
NM_000540.2:c.14559_14562delinsCGTG , LRG_766t1:c.14559_14562delinsCGTG NP_000531.2:p.Thr4853=
NM_001042723.1:c.14544_14547delinsCGTG NP_001036188.1:p.Thr4848=
XM_006723317.1:c.14541_14544delinsCGTG XP_006723380.1:p.Thr4847=
XM_006723319.1:c.14526_14529delinsCGTG XP_006723382.1:p.Thr4842=
XM_011527204.1:c.14556_14559delinsCGTG XP_011525506.1:p.Thr4852=
XM_011527205.1:c.14472_14475delinsCGTG XP_011525507.1:p.Thr4824=
XM_006723317.2:c.14541_14544delinsCGTG XP_006723380.1:p.Thr4847=
XM_006723319.2:c.14526_14529delinsCGTG XP_006723382.1:p.Thr4842=
XM_011527205.2:c.14472_14475delinsCGTG XP_011525507.1:p.Thr4824=
NM_000540.3:c.14559_14562delinsCGTG MANE Select NP_000531.2:p.Thr4853=
NM_001042723.2:c.14544_14547delinsCGTG NP_001036188.1:p.Thr4848=