Canonical Allele Identifier: CA2335059578

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512202_38512204delinsACT , CM000681.2:g.38512202_38512204delinsACT	GRCh38
NC_000019.9:g.39002842_39002844delinsACT , CM000681.1:g.39002842_39002844delinsACT	GRCh37
NC_000019.8:g.43694682_43694684delinsACT	NCBI36
NG_008866.1:g.83503_83505delinsACT , LRG_766:g.83503_83505delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9173-43_9173-41delinsACT	ENSP00000471601.2:n.9173-43_9173-41delinsACT
ENST00000359596.8:c.9234-43_9234-41delinsACT MANE Select	ENSP00000352608.2:n.9234-43_9234-41delinsACT
ENST00000355481.8:c.9234-43_9234-41delinsACT	ENSP00000347667.3:n.9234-43_9234-41delinsACT
ENST00000359596.7:c.9234-43_9234-41delinsACT	ENSP00000352608.2:n.9234-43_9234-41delinsACT
ENST00000360985.7:c.9231-43_9231-41delinsACT	ENSP00000354254.4:n.9231-43_9231-41delinsACT
ENST00000594335.5:c.2636-43_2636-41delinsACT
ENST00000599547.5:c.41-43_41-41delinsACT
NM_000540.2:c.9234-43_9234-41delinsACT , LRG_766t1:c.9234-43_9234-41delinsACT	NP_000531.2:n.9234-43_9234-41delinsACT
NM_001042723.1:c.9234-43_9234-41delinsACT	NP_001036188.1:n.9234-43_9234-41delinsACT
XM_006723317.1:c.9234-43_9234-41delinsACT	XP_006723380.1:n.9234-43_9234-41delinsACT
XM_006723319.1:c.9234-43_9234-41delinsACT	XP_006723382.1:n.9234-43_9234-41delinsACT
XM_011527204.1:c.9231-43_9231-41delinsACT	XP_011525506.1:n.9231-43_9231-41delinsACT
XM_011527205.1:c.9234-43_9234-41delinsACT	XP_011525507.1:n.9234-43_9234-41delinsACT
XM_006723317.2:c.9234-43_9234-41delinsACT	XP_006723380.1:n.9234-43_9234-41delinsACT
XM_006723319.2:c.9234-43_9234-41delinsACT	XP_006723382.1:n.9234-43_9234-41delinsACT
XM_011527205.2:c.9234-43_9234-41delinsACT	XP_011525507.1:n.9234-43_9234-41delinsACT
XR_001753735.1:n.9267-43_9267-41delinsACT
NM_000540.3:c.9234-43_9234-41delinsACT MANE Select	NP_000531.2:n.9234-43_9234-41delinsACT
NM_001042723.2:c.9234-43_9234-41delinsACT	NP_001036188.1:n.9234-43_9234-41delinsACT