Canonical Allele Identifier: CA633066428

Gene: RYR1

Linked Data

• dbSNP Id: rs1568521403
• gnomAD v2: 19-39002793-GCCCACT-G
• gnomAD v3: 19-38512153-GCCCACT-G
• gnomAD v4: 19-38512153-GCCCACT-G
• MyVariant Identifiers: chr19:g.39002799_39002816delinsCATCATCGGGCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512159_38512164del , CM000681.2:g.38512159_38512164del	GRCh38
NC_000019.9:g.39002799_39002804del , CM000681.1:g.39002799_39002804del	GRCh37
NC_000019.8:g.43694639_43694644del	NCBI36
NG_008866.1:g.83460_83465del , LRG_766:g.83460_83465del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9173-86_9173-81del	ENSP00000471601.2:n.9173-86_9173-81del
ENST00000359596.8:c.9233+27_9233+32del MANE Select	ENSP00000352608.2:n.9233+27_9233+32del
ENST00000355481.8:c.9233+27_9233+32del	ENSP00000347667.3:n.9233+27_9233+32del
ENST00000359596.7:c.9233+27_9233+32del	ENSP00000352608.2:n.9233+27_9233+32del
ENST00000360985.7:c.9230+27_9230+32del	ENSP00000354254.4:n.9230+27_9230+32del
ENST00000594335.5:c.2635+27_2635+32del
ENST00000599547.5:c.41-86_41-81del
NM_000540.2:c.9233+27_9233+32del , LRG_766t1:c.9233+27_9233+32del	NP_000531.2:n.9233+27_9233+32del
NM_001042723.1:c.9233+27_9233+32del	NP_001036188.1:n.9233+27_9233+32del
XM_006723317.1:c.9233+27_9233+32del	XP_006723380.1:n.9233+27_9233+32del
XM_006723319.1:c.9233+27_9233+32del	XP_006723382.1:n.9233+27_9233+32del
XM_011527204.1:c.9230+27_9230+32del	XP_011525506.1:n.9230+27_9230+32del
XM_011527205.1:c.9233+27_9233+32del	XP_011525507.1:n.9233+27_9233+32del
XM_006723317.2:c.9233+27_9233+32del	XP_006723380.1:n.9233+27_9233+32del
XM_006723319.2:c.9233+27_9233+32del	XP_006723382.1:n.9233+27_9233+32del
XM_011527205.2:c.9233+27_9233+32del	XP_011525507.1:n.9233+27_9233+32del
XR_001753735.1:n.9266+27_9266+32del
NM_000540.3:c.9233+27_9233+32del MANE Select	NP_000531.2:n.9233+27_9233+32del
NM_001042723.2:c.9233+27_9233+32del	NP_001036188.1:n.9233+27_9233+32del