Canonical Allele Identifier: CA2335070951

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38535973_38535974delinsCT , CM000681.2:g.38535973_38535974delinsCT	GRCh38
NC_000019.9:g.39026613_39026614delinsCT , CM000681.1:g.39026613_39026614delinsCT	GRCh37
NC_000019.8:g.43718453_43718454delinsCT	NCBI36
NG_008866.1:g.107274_107275delinsCT , LRG_766:g.107274_107275delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359596.8:c.11517-24_11517-23delinsCT MANE Select	ENSP00000352608.2:n.11517-24_11517-23delinsCT
ENST00000355481.8:c.11502-24_11502-23delinsCT	ENSP00000347667.3:n.11502-24_11502-23delinsCT
ENST00000359596.7:c.11517-24_11517-23delinsCT	ENSP00000352608.2:n.11517-24_11517-23delinsCT
ENST00000360985.7:c.11499-24_11499-23delinsCT	ENSP00000354254.4:n.11499-24_11499-23delinsCT
ENST00000593322.1:c.217+581_217+582delinsCT
ENST00000594335.5:c.4904-24_4904-23delinsCT
ENST00000596431.5:c.246-24_246-23delinsCT	ENSP00000470848.1:n.246-24_246-23delinsCT
ENST00000601514.5:c.798-24_798-23delinsCT	ENSP00000472497.1:n.798-24_798-23delinsCT
NM_000540.2:c.11517-24_11517-23delinsCT , LRG_766t1:c.11517-24_11517-23delinsCT	NP_000531.2:n.11517-24_11517-23delinsCT
NM_001042723.1:c.11502-24_11502-23delinsCT	NP_001036188.1:n.11502-24_11502-23delinsCT
XM_006723317.1:c.11517-24_11517-23delinsCT	XP_006723380.1:n.11517-24_11517-23delinsCT
XM_006723319.1:c.11502-24_11502-23delinsCT	XP_006723382.1:n.11502-24_11502-23delinsCT
XM_011527204.1:c.11514-24_11514-23delinsCT	XP_011525506.1:n.11514-24_11514-23delinsCT
XM_011527205.1:c.11517-24_11517-23delinsCT	XP_011525507.1:n.11517-24_11517-23delinsCT
XM_006723317.2:c.11517-24_11517-23delinsCT	XP_006723380.1:n.11517-24_11517-23delinsCT
XM_006723319.2:c.11502-24_11502-23delinsCT	XP_006723382.1:n.11502-24_11502-23delinsCT
XM_011527205.2:c.11517-24_11517-23delinsCT	XP_011525507.1:n.11517-24_11517-23delinsCT
NM_000540.3:c.11517-24_11517-23delinsCT MANE Select	NP_000531.2:n.11517-24_11517-23delinsCT
NM_001042723.2:c.11502-24_11502-23delinsCT	NP_001036188.1:n.11502-24_11502-23delinsCT