Canonical Allele Identifier: CA645612188

Gene: RYR1

Linked Data

• COSMIC: COSM1727567

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517400_38517405del , CM000681.2:g.38517400_38517405del	GRCh38
NC_000019.9:g.39008040_39008045del , CM000681.1:g.39008040_39008045del	GRCh37
NC_000019.8:g.43699880_43699885del	NCBI36
NG_008866.1:g.88701_88706del , LRG_766:g.88701_88706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9666_9671del	ENSP00000471601.2:n.9666_9671del
ENST00000359596.8:c.9727_9732del MANE Select	ENSP00000352608.2:p.Ile3243_Pro3244del
ENST00000355481.8:c.9727_9732del	ENSP00000347667.3:p.Ile3243_Pro3244del
ENST00000359596.7:c.9727_9732del	ENSP00000352608.2:p.Ile3243_Pro3244del
ENST00000360985.7:c.9724_9729del	ENSP00000354254.4:p.Ile3242_Pro3243del
ENST00000594335.5:c.3129_3134del
ENST00000599547.5:c.534_539del
NM_000540.2:c.9727_9732del , LRG_766t1:c.9727_9732del	NP_000531.2:p.Ile3243_Pro3244del
NM_001042723.1:c.9727_9732del	NP_001036188.1:p.Ile3243_Pro3244del
XM_006723317.1:c.9727_9732del	XP_006723380.1:p.Ile3243_Pro3244del
XM_006723319.1:c.9727_9732del	XP_006723382.1:p.Ile3243_Pro3244del
XM_011527204.1:c.9724_9729del	XP_011525506.1:p.Ile3242_Pro3243del
XM_011527205.1:c.9727_9732del	XP_011525507.1:p.Ile3243_Pro3244del
XM_006723317.2:c.9727_9732del	XP_006723380.1:p.Ile3243_Pro3244del
XM_006723319.2:c.9727_9732del	XP_006723382.1:p.Ile3243_Pro3244del
XM_011527205.2:c.9727_9732del	XP_011525507.1:p.Ile3243_Pro3244del
XR_001753735.1:n.9760_9765del
NM_000540.3:c.9727_9732del MANE Select	NP_000531.2:p.Ile3243_Pro3244del
NM_001042723.2:c.9727_9732del	NP_001036188.1:p.Ile3243_Pro3244del