Canonical Allele Identifier: CA2584900996

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502816-C-CAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , CM000681.2:g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	GRCh38
NC_000019.9:g.38993461_38993462insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , CM000681.1:g.38993461_38993462insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	GRCh37
NC_000019.8:g.43685301_43685302insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	NCBI36
NG_008866.1:g.74122_74123insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , LRG_766:g.74122_74123insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	ENSP00000471601.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000359596.8:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG MANE Select	ENSP00000352608.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000355481.8:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	ENSP00000347667.3:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000359596.7:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	ENSP00000352608.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000360985.7:c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	ENSP00000354254.4:n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGG...
ENST00000594335.5:c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
NM_000540.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG , LRG_766t1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	NP_000531.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGG...
NM_001042723.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	NP_001036188.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723317.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	XP_006723380.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723319.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	XP_006723382.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_011527204.1:c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	XP_011525506.1:n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_011527205.1:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	XP_011525507.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723317.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	XP_006723380.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_006723319.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	XP_006723382.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XM_011527205.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	XP_011525507.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...
XR_001753735.1:n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
NM_000540.3:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG MANE Select	NP_000531.2:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGG...
NM_001042723.2:c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG	NP_001036188.1:n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGA...