Canonical Allele Identifier: CA2584903360

Gene: RYR1

Linked Data

• gnomAD v4: 19-38512163-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512165del , CM000681.2:g.38512165del	GRCh38
NC_000019.9:g.39002805del , CM000681.1:g.39002805del	GRCh37
NC_000019.8:g.43694645del	NCBI36
NG_008866.1:g.83466del , LRG_766:g.83466del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9173-80del	ENSP00000471601.2:n.9173-80del
ENST00000359596.8:c.9233+33del MANE Select	ENSP00000352608.2:n.9233+33del
ENST00000355481.8:c.9233+33del	ENSP00000347667.3:n.9233+33del
ENST00000359596.7:c.9233+33del	ENSP00000352608.2:n.9233+33del
ENST00000360985.7:c.9230+33del	ENSP00000354254.4:n.9230+33del
ENST00000594335.5:c.2635+33del
ENST00000599547.5:c.41-80del
NM_000540.2:c.9233+33del , LRG_766t1:c.9233+33del	NP_000531.2:n.9233+33del
NM_001042723.1:c.9233+33del	NP_001036188.1:n.9233+33del
XM_006723317.1:c.9233+33del	XP_006723380.1:n.9233+33del
XM_006723319.1:c.9233+33del	XP_006723382.1:n.9233+33del
XM_011527204.1:c.9230+33del	XP_011525506.1:n.9230+33del
XM_011527205.1:c.9233+33del	XP_011525507.1:n.9233+33del
XM_006723317.2:c.9233+33del	XP_006723380.1:n.9233+33del
XM_006723319.2:c.9233+33del	XP_006723382.1:n.9233+33del
XM_011527205.2:c.9233+33del	XP_011525507.1:n.9233+33del
XR_001753735.1:n.9266+33del
NM_000540.3:c.9233+33del MANE Select	NP_000531.2:n.9233+33del
NM_001042723.2:c.9233+33del	NP_001036188.1:n.9233+33del