Canonical Allele Identifier: CA913189013

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565312_38565313del , CM000681.2:g.38565312_38565313del	GRCh38
NC_000019.9:g.39055952_39055953del , CM000681.1:g.39055952_39055953del	GRCh37
NC_000019.8:g.43747792_43747793del	NCBI36
NG_008866.1:g.136613_136614del , LRG_766:g.136613_136614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1388_1389del
ENST00000689936.1:c.1370_1371del
ENST00000359596.8:c.12978_12979del MANE Select	ENSP00000352608.2:p.Glu4327GlyfsTer?
ENST00000355481.8:c.12963_12964del	ENSP00000347667.3:p.Glu4322GlyfsTer?
ENST00000359596.7:c.12978_12979del	ENSP00000352608.2:p.Glu4327GlyfsTer?
ENST00000360985.7:c.12960_12961del	ENSP00000354254.4:p.Glu4321GlyfsTer?
NM_000540.2:c.12978_12979del , LRG_766t1:c.12978_12979del	NP_000531.2:p.Glu4327GlyfsTer?
NM_001042723.1:c.12963_12964del	NP_001036188.1:p.Glu4322GlyfsTer?
XM_006723317.1:c.12960_12961del	XP_006723380.1:p.Glu4321GlyfsTer?
XM_006723319.1:c.12945_12946del	XP_006723382.1:p.Glu4316GlyfsTer?
XM_011527204.1:c.12975_12976del	XP_011525506.1:p.Glu4326GlyfsTer?
XM_011527205.1:c.12978_12979del	XP_011525507.1:p.Glu4327GlyfsTer?
XM_006723317.2:c.12960_12961del	XP_006723380.1:p.Glu4321GlyfsTer?
XM_006723319.2:c.12945_12946del	XP_006723382.1:p.Glu4316GlyfsTer?
XM_011527205.2:c.12978_12979del	XP_011525507.1:p.Glu4327GlyfsTer?
NM_000540.3:c.12978_12979del MANE Select	NP_000531.2:p.Glu4327GlyfsTer?
NM_001042723.2:c.12963_12964del	NP_001036188.1:p.Glu4322GlyfsTer?