Canonical Allele Identifier: CA2335059551

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512153_38512159delinsGCCCACT , CM000681.2:g.38512153_38512159delinsGCCCACT	GRCh38
NC_000019.9:g.39002793_39002799delinsGCCCACT , CM000681.1:g.39002793_39002799delinsGCCCACT	GRCh37
NC_000019.8:g.43694633_43694639delinsGCCCACT	NCBI36
NG_008866.1:g.83454_83460delinsGCCCACT , LRG_766:g.83454_83460delinsGCCCACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9173-92_9173-86delinsGCCCACT	ENSP00000471601.2:n.9173-92_9173-86delins...
ENST00000359596.8:c.9233+21_9233+27delinsGCCCACT MANE Select	ENSP00000352608.2:n.9233+21_9233+27delins...
ENST00000355481.8:c.9233+21_9233+27delinsGCCCACT	ENSP00000347667.3:n.9233+21_9233+27delins...
ENST00000359596.7:c.9233+21_9233+27delinsGCCCACT	ENSP00000352608.2:n.9233+21_9233+27delins...
ENST00000360985.7:c.9230+21_9230+27delinsGCCCACT	ENSP00000354254.4:n.9230+21_9230+27delins...
ENST00000594335.5:c.2635+21_2635+27delinsGCCCACT
ENST00000599547.5:c.41-92_41-86delinsGCCCACT
NM_000540.2:c.9233+21_9233+27delinsGCCCACT , LRG_766t1:c.9233+21_9233+27delinsGCCCACT	NP_000531.2:n.9233+21_9233+27delinsGCCCAC...
NM_001042723.1:c.9233+21_9233+27delinsGCCCACT	NP_001036188.1:n.9233+21_9233+27delinsGCC...
XM_006723317.1:c.9233+21_9233+27delinsGCCCACT	XP_006723380.1:n.9233+21_9233+27delinsGCC...
XM_006723319.1:c.9233+21_9233+27delinsGCCCACT	XP_006723382.1:n.9233+21_9233+27delinsGCC...
XM_011527204.1:c.9230+21_9230+27delinsGCCCACT	XP_011525506.1:n.9230+21_9230+27delinsGCC...
XM_011527205.1:c.9233+21_9233+27delinsGCCCACT	XP_011525507.1:n.9233+21_9233+27delinsGCC...
XM_006723317.2:c.9233+21_9233+27delinsGCCCACT	XP_006723380.1:n.9233+21_9233+27delinsGCC...
XM_006723319.2:c.9233+21_9233+27delinsGCCCACT	XP_006723382.1:n.9233+21_9233+27delinsGCC...
XM_011527205.2:c.9233+21_9233+27delinsGCCCACT	XP_011525507.1:n.9233+21_9233+27delinsGCC...
XR_001753735.1:n.9266+21_9266+27delinsGCCCACT
NM_000540.3:c.9233+21_9233+27delinsGCCCACT MANE Select	NP_000531.2:n.9233+21_9233+27delinsGCCCAC...
NM_001042723.2:c.9233+21_9233+27delinsGCCCACT	NP_001036188.1:n.9233+21_9233+27delinsGCC...