Canonical Allele Identifier: CA2335061973

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517338_38517339delinsGC , CM000681.2:g.38517338_38517339delinsGC	GRCh38
NC_000019.9:g.39007978_39007979delinsGC , CM000681.1:g.39007978_39007979delinsGC	GRCh37
NC_000019.8:g.43699818_43699819delinsGC	NCBI36
NG_008866.1:g.88639_88640delinsGC , LRG_766:g.88639_88640delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9625-21_9625-20delinsGC	ENSP00000471601.2:n.9625-21_9625-20delinsGC
ENST00000359596.8:c.9686-21_9686-20delinsGC MANE Select	ENSP00000352608.2:n.9686-21_9686-20delinsGC
ENST00000355481.8:c.9686-21_9686-20delinsGC	ENSP00000347667.3:n.9686-21_9686-20delinsGC
ENST00000359596.7:c.9686-21_9686-20delinsGC	ENSP00000352608.2:n.9686-21_9686-20delinsGC
ENST00000360985.7:c.9683-21_9683-20delinsGC	ENSP00000354254.4:n.9683-21_9683-20delinsGC
ENST00000594335.5:c.3088-21_3088-20delinsGC
ENST00000599547.5:c.493-21_493-20delinsGC
NM_000540.2:c.9686-21_9686-20delinsGC , LRG_766t1:c.9686-21_9686-20delinsGC	NP_000531.2:n.9686-21_9686-20delinsGC
NM_001042723.1:c.9686-21_9686-20delinsGC	NP_001036188.1:n.9686-21_9686-20delinsGC
XM_006723317.1:c.9686-21_9686-20delinsGC	XP_006723380.1:n.9686-21_9686-20delinsGC
XM_006723319.1:c.9686-21_9686-20delinsGC	XP_006723382.1:n.9686-21_9686-20delinsGC
XM_011527204.1:c.9683-21_9683-20delinsGC	XP_011525506.1:n.9683-21_9683-20delinsGC
XM_011527205.1:c.9686-21_9686-20delinsGC	XP_011525507.1:n.9686-21_9686-20delinsGC
XM_006723317.2:c.9686-21_9686-20delinsGC	XP_006723380.1:n.9686-21_9686-20delinsGC
XM_006723319.2:c.9686-21_9686-20delinsGC	XP_006723382.1:n.9686-21_9686-20delinsGC
XM_011527205.2:c.9686-21_9686-20delinsGC	XP_011525507.1:n.9686-21_9686-20delinsGC
XR_001753735.1:n.9719-21_9719-20delinsGC
NM_000540.3:c.9686-21_9686-20delinsGC MANE Select	NP_000531.2:n.9686-21_9686-20delinsGC
NM_001042723.2:c.9686-21_9686-20delinsGC	NP_001036188.1:n.9686-21_9686-20delinsGC