Canonical Allele Identifier: CA2550222536

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565010_38565013del , CM000681.2:g.38565010_38565013del	GRCh38
NC_000019.9:g.39055650_39055653del , CM000681.1:g.39055650_39055653del	GRCh37
NC_000019.8:g.43747490_43747493del	NCBI36
NG_008866.1:g.136311_136314del , LRG_766:g.136311_136314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1086_1089del
ENST00000689936.1:c.1068_1071del
ENST00000359596.8:c.12676_12679del MANE Select	ENSP00000352608.2:p.Glu4226LeufsTer8
ENST00000355481.8:c.12661_12664del	ENSP00000347667.3:p.Glu4221LeufsTer8
ENST00000359596.7:c.12676_12679del	ENSP00000352608.2:p.Glu4226LeufsTer8
ENST00000360985.7:c.12658_12661del	ENSP00000354254.4:p.Glu4220LeufsTer8
ENST00000594335.5:c.6045_6048del
NM_000540.2:c.12676_12679del , LRG_766t1:c.12676_12679del	NP_000531.2:p.Glu4226LeufsTer8
NM_001042723.1:c.12661_12664del	NP_001036188.1:p.Glu4221LeufsTer8
XM_006723317.1:c.12658_12661del	XP_006723380.1:p.Glu4220LeufsTer8
XM_006723319.1:c.12643_12646del	XP_006723382.1:p.Glu4215LeufsTer8
XM_011527204.1:c.12673_12676del	XP_011525506.1:p.Glu4225LeufsTer8
XM_011527205.1:c.12676_12679del	XP_011525507.1:p.Glu4226LeufsTer8
XM_006723317.2:c.12658_12661del	XP_006723380.1:p.Glu4220LeufsTer8
XM_006723319.2:c.12643_12646del	XP_006723382.1:p.Glu4215LeufsTer8
XM_011527205.2:c.12676_12679del	XP_011525507.1:p.Glu4226LeufsTer8
NM_000540.3:c.12676_12679del MANE Select	NP_000531.2:p.Glu4226LeufsTer8
NM_001042723.2:c.12661_12664del	NP_001036188.1:p.Glu4221LeufsTer8