Canonical Allele Identifier: CA2335054463

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502731_38502734delinsGAGC , CM000681.2:g.38502731_38502734delinsGAGC	GRCh38
NC_000019.9:g.38993371_38993374delinsGAGC , CM000681.1:g.38993371_38993374delinsGAGC	GRCh37
NC_000019.8:g.43685211_43685214delinsGAGC	NCBI36
NG_008866.1:g.74032_74035delinsGAGC , LRG_766:g.74032_74035delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+4_7835+7delinsGAGC	ENSP00000471601.2:n.7835+4_7835+7delinsGAGC
ENST00000359596.8:c.7835+4_7835+7delinsGAGC MANE Select	ENSP00000352608.2:n.7835+4_7835+7delinsGAGC
ENST00000355481.8:c.7835+4_7835+7delinsGAGC	ENSP00000347667.3:n.7835+4_7835+7delinsGAGC
ENST00000359596.7:c.7835+4_7835+7delinsGAGC	ENSP00000352608.2:n.7835+4_7835+7delinsGAGC
ENST00000360985.7:c.7832+4_7832+7delinsGAGC	ENSP00000354254.4:n.7832+4_7832+7delinsGAGC
ENST00000594335.5:c.1287+4_1287+7delinsGAGC
NM_000540.2:c.7835+4_7835+7delinsGAGC , LRG_766t1:c.7835+4_7835+7delinsGAGC	NP_000531.2:n.7835+4_7835+7delinsGAGC
NM_001042723.1:c.7835+4_7835+7delinsGAGC	NP_001036188.1:n.7835+4_7835+7delinsGAGC
XM_006723317.1:c.7835+4_7835+7delinsGAGC	XP_006723380.1:n.7835+4_7835+7delinsGAGC
XM_006723319.1:c.7835+4_7835+7delinsGAGC	XP_006723382.1:n.7835+4_7835+7delinsGAGC
XM_011527204.1:c.7832+4_7832+7delinsGAGC	XP_011525506.1:n.7832+4_7832+7delinsGAGC
XM_011527205.1:c.7835+4_7835+7delinsGAGC	XP_011525507.1:n.7835+4_7835+7delinsGAGC
XM_006723317.2:c.7835+4_7835+7delinsGAGC	XP_006723380.1:n.7835+4_7835+7delinsGAGC
XM_006723319.2:c.7835+4_7835+7delinsGAGC	XP_006723382.1:n.7835+4_7835+7delinsGAGC
XM_011527205.2:c.7835+4_7835+7delinsGAGC	XP_011525507.1:n.7835+4_7835+7delinsGAGC
XR_001753735.1:n.7918+4_7918+7delinsGAGC
NM_000540.3:c.7835+4_7835+7delinsGAGC MANE Select	NP_000531.2:n.7835+4_7835+7delinsGAGC
NM_001042723.2:c.7835+4_7835+7delinsGAGC	NP_001036188.1:n.7835+4_7835+7delinsGAGC