Canonical Allele Identifier: CA2500957471

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2027506
• ClinVar RCV Id: RCV002858664

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564962_38564964del , CM000681.2:g.38564962_38564964del	GRCh38
NC_000019.9:g.39055602_39055604del , CM000681.1:g.39055602_39055604del	GRCh37
NC_000019.8:g.43747442_43747444del	NCBI36
NG_008866.1:g.136263_136265del , LRG_766:g.136263_136265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1038_1040del
ENST00000689936.1:c.1020_1022del
ENST00000359596.8:c.12628_12630del MANE Select	ENSP00000352608.2:p.Lys4210del
ENST00000355481.8:c.12613_12615del	ENSP00000347667.3:p.Lys4205del
ENST00000359596.7:c.12628_12630del	ENSP00000352608.2:p.Lys4210del
ENST00000360985.7:c.12610_12612del	ENSP00000354254.4:p.Lys4204del
ENST00000594335.5:c.5997_5999del
NM_000540.2:c.12628_12630del , LRG_766t1:c.12628_12630del	NP_000531.2:p.Lys4210del
NM_001042723.1:c.12613_12615del	NP_001036188.1:p.Lys4205del
XM_006723317.1:c.12610_12612del	XP_006723380.1:p.Lys4204del
XM_006723319.1:c.12595_12597del	XP_006723382.1:p.Lys4199del
XM_011527204.1:c.12625_12627del	XP_011525506.1:p.Lys4209del
XM_011527205.1:c.12628_12630del	XP_011525507.1:p.Lys4210del
XM_006723317.2:c.12610_12612del	XP_006723380.1:p.Lys4204del
XM_006723319.2:c.12595_12597del	XP_006723382.1:p.Lys4199del
XM_011527205.2:c.12628_12630del	XP_011525507.1:p.Lys4210del
NM_000540.3:c.12628_12630del MANE Select	NP_000531.2:p.Lys4210del
NM_001042723.2:c.12613_12615del	NP_001036188.1:p.Lys4205del