Canonical Allele Identifier: CA2335084797

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565300_38565302delinsGCT , CM000681.2:g.38565300_38565302delinsGCT	GRCh38
NC_000019.9:g.39055940_39055942delinsGCT , CM000681.1:g.39055940_39055942delinsGCT	GRCh37
NC_000019.8:g.43747780_43747782delinsGCT	NCBI36
NG_008866.1:g.136601_136603delinsGCT , LRG_766:g.136601_136603delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1376_1378delinsGCT
ENST00000689936.1:c.1358_1360delinsGCT
ENST00000359596.8:c.12966_12968delinsGCT MANE Select	ENSP00000352608.2:p.Arg4322=
ENST00000355481.8:c.12951_12953delinsGCT	ENSP00000347667.3:p.Arg4317=
ENST00000359596.7:c.12966_12968delinsGCT	ENSP00000352608.2:p.Arg4322=
ENST00000360985.7:c.12948_12950delinsGCT	ENSP00000354254.4:p.Arg4316=
NM_000540.2:c.12966_12968delinsGCT , LRG_766t1:c.12966_12968delinsGCT	NP_000531.2:p.Arg4322=
NM_001042723.1:c.12951_12953delinsGCT	NP_001036188.1:p.Arg4317=
XM_006723317.1:c.12948_12950delinsGCT	XP_006723380.1:p.Arg4316=
XM_006723319.1:c.12933_12935delinsGCT	XP_006723382.1:p.Arg4311=
XM_011527204.1:c.12963_12965delinsGCT	XP_011525506.1:p.Arg4321=
XM_011527205.1:c.12966_12968delinsGCT	XP_011525507.1:p.Arg4322=
XM_006723317.2:c.12948_12950delinsGCT	XP_006723380.1:p.Arg4316=
XM_006723319.2:c.12933_12935delinsGCT	XP_006723382.1:p.Arg4311=
XM_011527205.2:c.12966_12968delinsGCT	XP_011525507.1:p.Arg4322=
NM_000540.3:c.12966_12968delinsGCT MANE Select	NP_000531.2:p.Arg4322=
NM_001042723.2:c.12951_12953delinsGCT	NP_001036188.1:p.Arg4317=