Canonical Allele Identifier: CA2695228677

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580445_38580462del , CM000681.2:g.38580445_38580462del	GRCh38
NC_000019.9:g.39071085_39071102del , CM000681.1:g.39071085_39071102del	GRCh37
NC_000019.8:g.43762925_43762942del	NCBI36
NG_008866.1:g.151746_151763del , LRG_766:g.151746_151763del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1523_1540del
ENST00000688602.1:c.2920_2937del
ENST00000689936.1:c.2892_2909del
ENST00000359596.8:c.14587_14604del MANE Select	ENSP00000352608.2:p.Phe4863_Glu4868del
ENST00000355481.8:c.14572_14589del	ENSP00000347667.3:p.Phe4858_Glu4863del
ENST00000359596.7:c.14587_14604del	ENSP00000352608.2:p.Phe4863_Glu4868del
ENST00000360985.7:c.14569_14586del	ENSP00000354254.4:p.Phe4857_Glu4862del
NM_000540.2:c.14587_14604del , LRG_766t1:c.14587_14604del	NP_000531.2:p.Phe4863_Glu4868del
NM_001042723.1:c.14572_14589del	NP_001036188.1:p.Phe4858_Glu4863del
XM_006723317.1:c.14569_14586del	XP_006723380.1:p.Phe4857_Glu4862del
XM_006723319.1:c.14554_14571del	XP_006723382.1:p.Phe4852_Glu4857del
XM_011527204.1:c.14584_14601del	XP_011525506.1:p.Phe4862_Glu4867del
XM_011527205.1:c.14500_14517del	XP_011525507.1:p.Phe4834_Glu4839del
XM_006723317.2:c.14569_14586del	XP_006723380.1:p.Phe4857_Glu4862del
XM_006723319.2:c.14554_14571del	XP_006723382.1:p.Phe4852_Glu4857del
XM_011527205.2:c.14500_14517del	XP_011525507.1:p.Phe4834_Glu4839del
NM_000540.3:c.14587_14604del MANE Select	NP_000531.2:p.Phe4863_Glu4868del
NM_001042723.2:c.14572_14589del	NP_001036188.1:p.Phe4858_Glu4863del