Canonical Allele Identifier: CA2584908082

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543368-CACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543373_38543376del , CM000681.2:g.38543373_38543376del	GRCh38
NC_000019.9:g.39034013_39034016del , CM000681.1:g.39034013_39034016del	GRCh37
NC_000019.8:g.43725853_43725856del	NCBI36
NG_008866.1:g.114674_114677del , LRG_766:g.114674_114677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.126_129del
ENST00000689936.1:c.108_111del
ENST00000359596.8:c.11716_11719del MANE Select	ENSP00000352608.2:p.Thr3906GlyfsTer?
ENST00000355481.8:c.11701_11704del	ENSP00000347667.3:p.Thr3901GlyfsTer?
ENST00000359596.7:c.11716_11719del	ENSP00000352608.2:p.Thr3906GlyfsTer?
ENST00000360985.7:c.11698_11701del	ENSP00000354254.4:p.Thr3900GlyfsTer?
ENST00000593322.1:c.325_328del
ENST00000594335.5:c.5085_5088del
NM_000540.2:c.11716_11719del , LRG_766t1:c.11716_11719del	NP_000531.2:p.Thr3906GlyfsTer?
NM_001042723.1:c.11701_11704del	NP_001036188.1:p.Thr3901GlyfsTer?
XM_006723317.1:c.11698_11701del	XP_006723380.1:p.Thr3900GlyfsTer?
XM_006723319.1:c.11683_11686del	XP_006723382.1:p.Thr3895GlyfsTer?
XM_011527204.1:c.11713_11716del	XP_011525506.1:p.Thr3905GlyfsTer?
XM_011527205.1:c.11716_11719del	XP_011525507.1:p.Thr3906GlyfsTer?
XM_006723317.2:c.11698_11701del	XP_006723380.1:p.Thr3900GlyfsTer?
XM_006723319.2:c.11683_11686del	XP_006723382.1:p.Thr3895GlyfsTer?
XM_011527205.2:c.11716_11719del	XP_011525507.1:p.Thr3906GlyfsTer?
NM_000540.3:c.11716_11719del MANE Select	NP_000531.2:p.Thr3906GlyfsTer?
NM_001042723.2:c.11701_11704del	NP_001036188.1:p.Thr3901GlyfsTer?