Canonical Allele Identifier: CA2739276752

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2865933
• ClinVar RCV Id: RCV003757861

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543819del , CM000681.2:g.38543819del	GRCh38
NC_000019.9:g.39034459del , CM000681.1:g.39034459del	GRCh37
NC_000019.8:g.43726299del	NCBI36
NG_008866.1:g.115120del , LRG_766:g.115120del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.366del
ENST00000689936.1:c.348del
ENST00000359596.8:c.11956del MANE Select	ENSP00000352608.2:p.Asp3986ThrfsTer13
ENST00000355481.8:c.11941del	ENSP00000347667.3:p.Asp3981ThrfsTer13
ENST00000359596.7:c.11956del	ENSP00000352608.2:p.Asp3986ThrfsTer13
ENST00000360985.7:c.11938del	ENSP00000354254.4:p.Asp3980ThrfsTer13
ENST00000593322.1:c.565del
ENST00000594335.5:c.5325del
NM_000540.2:c.11956del , LRG_766t1:c.11956del	NP_000531.2:p.Asp3986ThrfsTer13
NM_001042723.1:c.11941del	NP_001036188.1:p.Asp3981ThrfsTer13
XM_006723317.1:c.11938del	XP_006723380.1:p.Asp3980ThrfsTer13
XM_006723319.1:c.11923del	XP_006723382.1:p.Asp3975ThrfsTer13
XM_011527204.1:c.11953del	XP_011525506.1:p.Asp3985ThrfsTer13
XM_011527205.1:c.11956del	XP_011525507.1:p.Asp3986ThrfsTer13
XM_006723317.2:c.11938del	XP_006723380.1:p.Asp3980ThrfsTer13
XM_006723319.2:c.11923del	XP_006723382.1:p.Asp3975ThrfsTer13
XM_011527205.2:c.11956del	XP_011525507.1:p.Asp3986ThrfsTer13
NM_000540.3:c.11956del MANE Select	NP_000531.2:p.Asp3986ThrfsTer13
NM_001042723.2:c.11941del	NP_001036188.1:p.Asp3981ThrfsTer13