Canonical Allele Identifier: CA2335054259

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502333_38502347delinsCTGTGGGCATAGGGG , CM000681.2:g.38502333_38502347delinsCTGTGGGCATAGGGG	GRCh38
NC_000019.9:g.38992973_38992987delinsCTGTGGGCATAGGGG , CM000681.1:g.38992973_38992987delinsCTGTGGGCATAGGGG	GRCh37
NC_000019.8:g.43684813_43684827delinsCTGTGGGCATAGGGG	NCBI36
NG_008866.1:g.73634_73648delinsCTGTGGGCATAGGGG , LRG_766:g.73634_73648delinsCTGTGGGCATAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	ENSP00000471601.2:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
ENST00000359596.8:c.7615-174_7615-160delinsCTGTGGGCATAGGGG MANE Select	ENSP00000352608.2:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
ENST00000355481.8:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	ENSP00000347667.3:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
ENST00000359596.7:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	ENSP00000352608.2:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
ENST00000360985.7:c.7612-174_7612-160delinsCTGTGGGCATAGGGG	ENSP00000354254.4:n.7612-174_7612-160delinsCTGTGGGCATAGGGG
ENST00000594335.5:c.1067-174_1067-160delinsCTGTGGGCATAGGGG
NM_000540.2:c.7615-174_7615-160delinsCTGTGGGCATAGGGG , LRG_766t1:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	NP_000531.2:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
NM_001042723.1:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	NP_001036188.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
XM_006723317.1:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	XP_006723380.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
XM_006723319.1:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	XP_006723382.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
XM_011527204.1:c.7612-174_7612-160delinsCTGTGGGCATAGGGG	XP_011525506.1:n.7612-174_7612-160delinsCTGTGGGCATAGGGG
XM_011527205.1:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	XP_011525507.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
XM_006723317.2:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	XP_006723380.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
XM_006723319.2:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	XP_006723382.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
XM_011527205.2:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	XP_011525507.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
XR_001753735.1:n.7698-174_7698-160delinsCTGTGGGCATAGGGG
NM_000540.3:c.7615-174_7615-160delinsCTGTGGGCATAGGGG MANE Select	NP_000531.2:n.7615-174_7615-160delinsCTGTGGGCATAGGGG
NM_001042723.2:c.7615-174_7615-160delinsCTGTGGGCATAGGGG	NP_001036188.1:n.7615-174_7615-160delinsCTGTGGGCATAGGGG