Canonical Allele Identifier: CA2335059570

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512186_38512187delinsAC , CM000681.2:g.38512186_38512187delinsAC	GRCh38
NC_000019.9:g.39002826_39002827delinsAC , CM000681.1:g.39002826_39002827delinsAC	GRCh37
NC_000019.8:g.43694666_43694667delinsAC	NCBI36
NG_008866.1:g.83487_83488delinsAC , LRG_766:g.83487_83488delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9173-59_9173-58delinsAC	ENSP00000471601.2:n.9173-59_9173-58delinsAC
ENST00000359596.8:c.9233+54_9233+55delinsAC MANE Select	ENSP00000352608.2:n.9233+54_9233+55delinsAC
ENST00000355481.8:c.9233+54_9233+55delinsAC	ENSP00000347667.3:n.9233+54_9233+55delinsAC
ENST00000359596.7:c.9233+54_9233+55delinsAC	ENSP00000352608.2:n.9233+54_9233+55delinsAC
ENST00000360985.7:c.9230+54_9230+55delinsAC	ENSP00000354254.4:n.9230+54_9230+55delinsAC
ENST00000594335.5:c.2635+54_2635+55delinsAC
ENST00000599547.5:c.41-59_41-58delinsAC
NM_000540.2:c.9233+54_9233+55delinsAC , LRG_766t1:c.9233+54_9233+55delinsAC	NP_000531.2:n.9233+54_9233+55delinsAC
NM_001042723.1:c.9233+54_9233+55delinsAC	NP_001036188.1:n.9233+54_9233+55delinsAC
XM_006723317.1:c.9233+54_9233+55delinsAC	XP_006723380.1:n.9233+54_9233+55delinsAC
XM_006723319.1:c.9233+54_9233+55delinsAC	XP_006723382.1:n.9233+54_9233+55delinsAC
XM_011527204.1:c.9230+54_9230+55delinsAC	XP_011525506.1:n.9230+54_9230+55delinsAC
XM_011527205.1:c.9233+54_9233+55delinsAC	XP_011525507.1:n.9233+54_9233+55delinsAC
XM_006723317.2:c.9233+54_9233+55delinsAC	XP_006723380.1:n.9233+54_9233+55delinsAC
XM_006723319.2:c.9233+54_9233+55delinsAC	XP_006723382.1:n.9233+54_9233+55delinsAC
XM_011527205.2:c.9233+54_9233+55delinsAC	XP_011525507.1:n.9233+54_9233+55delinsAC
XR_001753735.1:n.9266+54_9266+55delinsAC
NM_000540.3:c.9233+54_9233+55delinsAC MANE Select	NP_000531.2:n.9233+54_9233+55delinsAC
NM_001042723.2:c.9233+54_9233+55delinsAC	NP_001036188.1:n.9233+54_9233+55delinsAC