Canonical Allele Identifier: CA2335054497

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502750_38502768delinsGTGGGGCAGGGGCAGGGGC , CM000681.2:g.38502750_38502768delinsGTGGGGCAGGGGCAGGGGC	GRCh38
NC_000019.9:g.38993390_38993408delinsGTGGGGCAGGGGCAGGGGC , CM000681.1:g.38993390_38993408delinsGTGGGGCAGGGGCAGGGGC	GRCh37
NC_000019.8:g.43685230_43685248delinsGTGGGGCAGGGGCAGGGGC	NCBI36
NG_008866.1:g.74051_74069delinsGTGGGGCAGGGGCAGGGGC , LRG_766:g.74051_74069delinsGTGGGGCAGGGGCAGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	ENSP00000471601.2:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
ENST00000359596.8:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC MANE Select	ENSP00000352608.2:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
ENST00000355481.8:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	ENSP00000347667.3:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
ENST00000359596.7:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	ENSP00000352608.2:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
ENST00000360985.7:c.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC	ENSP00000354254.4:n.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC
ENST00000594335.5:c.1287+23_1287+41delinsGTGGGGCAGGGGCAGGGGC
NM_000540.2:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC , LRG_766t1:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	NP_000531.2:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
NM_001042723.1:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	NP_001036188.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
XM_006723317.1:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	XP_006723380.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
XM_006723319.1:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	XP_006723382.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
XM_011527204.1:c.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC	XP_011525506.1:n.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC
XM_011527205.1:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	XP_011525507.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
XM_006723317.2:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	XP_006723380.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
XM_006723319.2:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	XP_006723382.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
XM_011527205.2:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	XP_011525507.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
XR_001753735.1:n.7918+23_7918+41delinsGTGGGGCAGGGGCAGGGGC
NM_000540.3:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC MANE Select	NP_000531.2:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC
NM_001042723.2:c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC	NP_001036188.1:n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC