Canonical Allele Identifier: CA2335084825

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565355_38565388delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG , CM000681.2:g.38565355_38565388delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	GRCh38
NC_000019.9:g.39055995_39056028delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG , CM000681.1:g.39055995_39056028delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	GRCh37
NC_000019.8:g.43747835_43747868delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	NCBI36
NG_008866.1:g.136656_136689delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG , LRG_766:g.136656_136689delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1431_1464delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG
ENST00000689936.1:c.1413_1446delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG
ENST00000359596.8:c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG MANE Select	ENSP00000352608.2:p.Thr4341=
ENST00000355481.8:c.13006_13039delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	ENSP00000347667.3:p.Thr4336=
ENST00000359596.7:c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	ENSP00000352608.2:p.Thr4341=
ENST00000360985.7:c.13003_13036delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	ENSP00000354254.4:p.Thr4335=
NM_000540.2:c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG , LRG_766t1:c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	NP_000531.2:p.Thr4341=
NM_001042723.1:c.13006_13039delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	NP_001036188.1:p.Thr4336=
XM_006723317.1:c.13003_13036delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	XP_006723380.1:p.Thr4335=
XM_006723319.1:c.12988_13021delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	XP_006723382.1:p.Thr4330=
XM_011527204.1:c.13018_13051delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	XP_011525506.1:p.Thr4340=
XM_011527205.1:c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	XP_011525507.1:p.Thr4341=
XM_006723317.2:c.13003_13036delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	XP_006723380.1:p.Thr4335=
XM_006723319.2:c.12988_13021delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	XP_006723382.1:p.Thr4330=
XM_011527205.2:c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	XP_011525507.1:p.Thr4341=
NM_000540.3:c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG MANE Select	NP_000531.2:p.Thr4341=
NM_001042723.2:c.13006_13039delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	NP_001036188.1:p.Thr4336=