Canonical Allele Identifier: CA2697556583

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2740196
• ClinVar RCV Id: RCV003591198

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543648_38543649del , CM000681.2:g.38543648_38543649del	GRCh38
NC_000019.9:g.39034288_39034289del , CM000681.1:g.39034288_39034289del	GRCh37
NC_000019.8:g.43726128_43726129del	NCBI36
NG_008866.1:g.114949_114950del , LRG_766:g.114949_114950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.305_306del
ENST00000689936.1:c.287_288del
ENST00000359596.8:c.11895_11896del MANE Select	ENSP00000352608.2:p.Glu3966ValfsTer?
ENST00000355481.8:c.11880_11881del	ENSP00000347667.3:p.Glu3961ValfsTer?
ENST00000359596.7:c.11895_11896del	ENSP00000352608.2:p.Glu3966ValfsTer?
ENST00000360985.7:c.11877_11878del	ENSP00000354254.4:p.Glu3960ValfsTer?
ENST00000593322.1:c.504_505del
ENST00000594335.5:c.5264_5265del
NM_000540.2:c.11895_11896del , LRG_766t1:c.11895_11896del	NP_000531.2:p.Glu3966ValfsTer?
NM_001042723.1:c.11880_11881del	NP_001036188.1:p.Glu3961ValfsTer?
XM_006723317.1:c.11877_11878del	XP_006723380.1:p.Glu3960ValfsTer?
XM_006723319.1:c.11862_11863del	XP_006723382.1:p.Glu3955ValfsTer?
XM_011527204.1:c.11892_11893del	XP_011525506.1:p.Glu3965ValfsTer?
XM_011527205.1:c.11895_11896del	XP_011525507.1:p.Glu3966ValfsTer?
XM_006723317.2:c.11877_11878del	XP_006723380.1:p.Glu3960ValfsTer?
XM_006723319.2:c.11862_11863del	XP_006723382.1:p.Glu3955ValfsTer?
XM_011527205.2:c.11895_11896del	XP_011525507.1:p.Glu3966ValfsTer?
NM_000540.3:c.11895_11896del MANE Select	NP_000531.2:p.Glu3966ValfsTer?
NM_001042723.2:c.11880_11881del	NP_001036188.1:p.Glu3961ValfsTer?