Canonical Allele Identifier: CA2959596546

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565143_38565586del , CM000681.2:g.38565143_38565586del	GRCh38
NC_000019.9:g.39055783_39056226del , CM000681.1:g.39055783_39056226del	GRCh37
NC_000019.8:g.43747623_43748066del	NCBI36
NG_008866.1:g.136444_136887del , LRG_766:g.136444_136887del

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.12809_13252del MANE Select	NP_000531.2:p.Ala4270_Glu4417del
ENST00000359596.8:c.12809_13252del MANE Select	ENSP00000352608.2:p.Ala4270_Glu4417del
NM_000540.2:c.12809_13252del , LRG_766t1:c.12809_13252del	NP_000531.2:p.Ala4270_Glu4417del
NM_001042723.1:c.12794_13237del	NP_001036188.1:p.Ala4265_Glu4412del
NM_001042723.2:c.12794_13237del	NP_001036188.1:p.Ala4265_Glu4412del
ENST00000355481.8:c.12794_13237del	ENSP00000347667.3:p.Ala4265_Glu4412del
ENST00000359596.7:c.12809_13252del	ENSP00000352608.2:p.Ala4270_Glu4417del
ENST00000360985.7:c.12791_13234del	ENSP00000354254.4:p.Ala4264_Glu4411del
ENST00000688602.1:c.1219_1662del
ENST00000689936.1:c.1201_1644del
XM_006723317.1:c.12791_13234del	XP_006723380.1:p.Ala4264_Glu4411del
XM_006723317.2:c.12791_13234del	XP_006723380.1:p.Ala4264_Glu4411del
XM_006723319.1:c.12776_13219del	XP_006723382.1:p.Ala4259_Glu4406del
XM_006723319.2:c.12776_13219del	XP_006723382.1:p.Ala4259_Glu4406del
XM_011527204.1:c.12806_13249del	XP_011525506.1:p.Ala4269_Glu4416del
XM_011527205.1:c.12809_13252del	XP_011525507.1:p.Ala4270_Glu4417del
XM_011527205.2:c.12809_13252del	XP_011525507.1:p.Ala4270_Glu4417del