Canonical Allele Identifier: CA2584900967

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502814-A-AGGGGGAGGGGGAGGGGCAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502815_38502816insGGGGAGGGGGAGGGGCAGGGG , CM000681.2:g.38502815_38502816insGGGGAGGGGGAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993455_38993456insGGGGAGGGGGAGGGGCAGGGG , CM000681.1:g.38993455_38993456insGGGGAGGGGGAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685295_43685296insGGGGAGGGGGAGGGGCAGGGG	NCBI36
NG_008866.1:g.74116_74117insGGGGAGGGGGAGGGGCAGGGG , LRG_766:g.74116_74117insGGGGAGGGGGAGGGGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	ENSP00000471601.2:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
ENST00000359596.8:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG MANE Select	ENSP00000352608.2:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
ENST00000355481.8:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	ENSP00000347667.3:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
ENST00000359596.7:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	ENSP00000352608.2:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
ENST00000360985.7:c.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG	ENSP00000354254.4:n.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG
ENST00000594335.5:c.1288-65_1288-64insGGGGAGGGGGAGGGGCAGGGG
NM_000540.2:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG , LRG_766t1:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	NP_000531.2:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
NM_001042723.1:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	NP_001036188.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
XM_006723317.1:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	XP_006723380.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
XM_006723319.1:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	XP_006723382.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
XM_011527204.1:c.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG	XP_011525506.1:n.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG
XM_011527205.1:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	XP_011525507.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
XM_006723317.2:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	XP_006723380.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
XM_006723319.2:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	XP_006723382.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
XM_011527205.2:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	XP_011525507.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
XR_001753735.1:n.7919-65_7919-64insGGGGAGGGGGAGGGGCAGGGG
NM_000540.3:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG MANE Select	NP_000531.2:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG
NM_001042723.2:c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG	NP_001036188.1:n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG