Canonical Allele Identifier: CA2335053146

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500225_38500259delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA , CM000681.2:g.38500225_38500259delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	GRCh38
NC_000019.9:g.38990865_38990899delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA , CM000681.1:g.38990865_38990899delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	GRCh37
NC_000019.8:g.43682705_43682739delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	NCBI36
NG_008866.1:g.71526_71560delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA , LRG_766:g.71526_71560delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	ENSP00000471601.2:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGG...
ENST00000359596.8:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA MANE Select	ENSP00000352608.2:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGG...
ENST00000355481.8:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	ENSP00000347667.3:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGG...
ENST00000359596.7:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	ENSP00000352608.2:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGG...
ENST00000360985.7:c.7320+209_7320+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	ENSP00000354254.4:n.7320+209_7320+243delinsCAGAGTGGTCAGGGCTGG...
ENST00000594335.5:c.775+209_775+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA
NM_000540.2:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA , LRG_766t1:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	NP_000531.2:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGG...
NM_001042723.1:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	NP_001036188.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...
XM_006723317.1:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	XP_006723380.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...
XM_006723319.1:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	XP_006723382.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...
XM_011527204.1:c.7320+209_7320+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	XP_011525506.1:n.7320+209_7320+243delinsCAGAGTGGTCAGGGCTGGGAT...
XM_011527205.1:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	XP_011525507.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...
XM_006723317.2:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	XP_006723380.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...
XM_006723319.2:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	XP_006723382.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...
XM_011527205.2:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	XP_011525507.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...
XR_001753735.1:n.7406+209_7406+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA
NM_000540.3:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA MANE Select	NP_000531.2:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGG...
NM_001042723.2:c.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGA	NP_001036188.1:n.7323+209_7323+243delinsCAGAGTGGTCAGGGCTGGGAT...