Canonical Allele Identifier: CA2335095589

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586178_38586190delinsCTGGCCAATTACA , CM000681.2:g.38586178_38586190delinsCTGGCCAATTACA	GRCh38
NC_000019.9:g.39076818_39076830delinsCTGGCCAATTACA , CM000681.1:g.39076818_39076830delinsCTGGCCAATTACA	GRCh37
NC_000019.8:g.43768658_43768670delinsCTGGCCAATTACA	NCBI36
NG_008866.1:g.157479_157491delinsCTGGCCAATTACA , LRG_766:g.157479_157491delinsCTGGCCAATTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1892_1904delinsCTGGCCAATTACA
ENST00000688602.1:c.3289_3301delinsCTGGCCAATTACA
ENST00000689936.1:c.3261_3273delinsCTGGCCAATTACA
ENST00000692547.1:n.349_361delinsCTGGCCAATTACA
ENST00000359596.8:c.14956_14968delinsCTGGCCAATTACA MANE Select	ENSP00000352608.2:p.Leu4986=
ENST00000355481.8:c.14941_14953delinsCTGGCCAATTACA	ENSP00000347667.3:p.Leu4981=
ENST00000359596.7:c.14956_14968delinsCTGGCCAATTACA	ENSP00000352608.2:p.Leu4986=
ENST00000360985.7:c.14938_14950delinsCTGGCCAATTACA	ENSP00000354254.4:p.Leu4980=
NM_000540.2:c.14956_14968delinsCTGGCCAATTACA , LRG_766t1:c.14956_14968delinsCTGGCCAATTACA	NP_000531.2:p.Leu4986=
NM_001042723.1:c.14941_14953delinsCTGGCCAATTACA	NP_001036188.1:p.Leu4981=
XM_006723317.1:c.14938_14950delinsCTGGCCAATTACA	XP_006723380.1:p.Leu4980=
XM_006723319.1:c.14923_14935delinsCTGGCCAATTACA	XP_006723382.1:p.Leu4975=
XM_011527204.1:c.14953_14965delinsCTGGCCAATTACA	XP_011525506.1:p.Leu4985=
XM_011527205.1:c.14869_14881delinsCTGGCCAATTACA	XP_011525507.1:p.Leu4957=
XM_006723317.2:c.14938_14950delinsCTGGCCAATTACA	XP_006723380.1:p.Leu4980=
XM_006723319.2:c.14923_14935delinsCTGGCCAATTACA	XP_006723382.1:p.Leu4975=
XM_011527205.2:c.14869_14881delinsCTGGCCAATTACA	XP_011525507.1:p.Leu4957=
NM_000540.3:c.14956_14968delinsCTGGCCAATTACA MANE Select	NP_000531.2:p.Leu4986=
NM_001042723.2:c.14941_14953delinsCTGGCCAATTACA	NP_001036188.1:p.Leu4981=