Canonical Allele Identifier: CA2584900893

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502804-C-CAGGGGGGGGGGCAGGGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502810_38502811insGGGGGCAGGGGGAGGGGGAGGGGG , CM000681.2:g.38502810_38502811insGGGGGCAGGGGGAGGGGGAGGGGG	GRCh38
NC_000019.9:g.38993450_38993451insGGGGGCAGGGGGAGGGGGAGGGGG , CM000681.1:g.38993450_38993451insGGGGGCAGGGGGAGGGGGAGGGGG	GRCh37
NC_000019.8:g.43685290_43685291insGGGGGCAGGGGGAGGGGGAGGGGG	NCBI36
NG_008866.1:g.74111_74112insGGGGGCAGGGGGAGGGGGAGGGGG , LRG_766:g.74111_74112insGGGGGCAGGGGGAGGGGGAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	ENSP00000471601.2:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGG...
ENST00000359596.8:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG MANE Select	ENSP00000352608.2:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGG...
ENST00000355481.8:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	ENSP00000347667.3:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGG...
ENST00000359596.7:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	ENSP00000352608.2:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGG...
ENST00000360985.7:c.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG	ENSP00000354254.4:n.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGG...
ENST00000594335.5:c.1288-70_1288-69insGGGGGCAGGGGGAGGGGGAGGGGG
NM_000540.2:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG , LRG_766t1:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	NP_000531.2:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
NM_001042723.1:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	NP_001036188.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
XM_006723317.1:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	XP_006723380.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
XM_006723319.1:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	XP_006723382.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
XM_011527204.1:c.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG	XP_011525506.1:n.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG
XM_011527205.1:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	XP_011525507.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
XM_006723317.2:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	XP_006723380.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
XM_006723319.2:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	XP_006723382.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
XM_011527205.2:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	XP_011525507.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
XR_001753735.1:n.7919-70_7919-69insGGGGGCAGGGGGAGGGGGAGGGGG
NM_000540.3:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG MANE Select	NP_000531.2:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG
NM_001042723.2:c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG	NP_001036188.1:n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG