Canonical Allele Identifier: CA2584901062

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502822-C-CAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG , CM000681.2:g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	GRCh38
NC_000019.9:g.38993470_38993471insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG , CM000681.1:g.38993470_38993471insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	GRCh37
NC_000019.8:g.43685310_43685311insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	NCBI36
NG_008866.1:g.74131_74132insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG , LRG_766:g.74131_74132insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	ENSP00000471601.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000359596.8:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG MANE Select	ENSP00000352608.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000355481.8:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	ENSP00000347667.3:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000359596.7:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	ENSP00000352608.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000360985.7:c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	ENSP00000354254.4:n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGA...
ENST00000594335.5:c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
NM_000540.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG , LRG_766t1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	NP_000531.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGA...
NM_001042723.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	NP_001036188.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723317.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	XP_006723380.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723319.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	XP_006723382.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527204.1:c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	XP_011525506.1:n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527205.1:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	XP_011525507.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723317.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	XP_006723380.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_006723319.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	XP_006723382.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XM_011527205.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	XP_011525507.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...
XR_001753735.1:n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
NM_000540.3:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG MANE Select	NP_000531.2:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGA...
NM_001042723.2:c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG	NP_001036188.1:n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGG...