Canonical Allele Identifier: CA2335084826

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565356_38565391delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG , CM000681.2:g.38565356_38565391delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	GRCh38
NC_000019.9:g.39055996_39056031delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG , CM000681.1:g.39055996_39056031delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	GRCh37
NC_000019.8:g.43747836_43747871delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	NCBI36
NG_008866.1:g.136657_136692delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG , LRG_766:g.136657_136692delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1432_1467delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG
ENST00000689936.1:c.1414_1449delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG
ENST00000359596.8:c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG MANE Select	ENSP00000352608.2:p.Thr4341=
ENST00000355481.8:c.13007_13042delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	ENSP00000347667.3:p.Thr4336=
ENST00000359596.7:c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	ENSP00000352608.2:p.Thr4341=
ENST00000360985.7:c.13004_13039delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	ENSP00000354254.4:p.Thr4335=
NM_000540.2:c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG , LRG_766t1:c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	NP_000531.2:p.Thr4341=
NM_001042723.1:c.13007_13042delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	NP_001036188.1:p.Thr4336=
XM_006723317.1:c.13004_13039delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	XP_006723380.1:p.Thr4335=
XM_006723319.1:c.12989_13024delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	XP_006723382.1:p.Thr4330=
XM_011527204.1:c.13019_13054delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	XP_011525506.1:p.Thr4340=
XM_011527205.1:c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	XP_011525507.1:p.Thr4341=
XM_006723317.2:c.13004_13039delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	XP_006723380.1:p.Thr4335=
XM_006723319.2:c.12989_13024delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	XP_006723382.1:p.Thr4330=
XM_011527205.2:c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	XP_011525507.1:p.Thr4341=
NM_000540.3:c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG MANE Select	NP_000531.2:p.Thr4341=
NM_001042723.2:c.13007_13042delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	NP_001036188.1:p.Thr4336=