Canonical Allele Identifier: CA2843139571

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572066_38572067del , CM000681.2:g.38572066_38572067del	GRCh38
NC_000019.9:g.39062706_39062707del , CM000681.1:g.39062706_39062707del	GRCh37
NC_000019.8:g.43754546_43754547del	NCBI36
NG_008866.1:g.143367_143368del , LRG_766:g.143367_143368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.730_731del
ENST00000688602.1:c.2127_2128del
ENST00000689936.1:c.2099_2100del
ENST00000359596.8:c.13794_13795del MANE Select	ENSP00000352608.2:p.Asp4600CysfsTer24
ENST00000355481.8:c.13779_13780del	ENSP00000347667.3:p.Asp4595CysfsTer24
ENST00000359596.7:c.13794_13795del	ENSP00000352608.2:p.Asp4600CysfsTer24
ENST00000360985.7:c.13776_13777del	ENSP00000354254.4:p.Asp4594CysfsTer24
ENST00000593677.1:c.254_255del
NM_000540.2:c.13794_13795del , LRG_766t1:c.13794_13795del	NP_000531.2:p.Asp4600CysfsTer24
NM_001042723.1:c.13779_13780del	NP_001036188.1:p.Asp4595CysfsTer24
XM_006723317.1:c.13776_13777del	XP_006723380.1:p.Asp4594CysfsTer24
XM_006723319.1:c.13761_13762del	XP_006723382.1:p.Asp4589CysfsTer24
XM_011527204.1:c.13791_13792del	XP_011525506.1:p.Asp4599CysfsTer24
XM_011527205.1:c.13707_13708del	XP_011525507.1:p.Asp4571CysfsTer24
XM_006723317.2:c.13776_13777del	XP_006723380.1:p.Asp4594CysfsTer24
XM_006723319.2:c.13761_13762del	XP_006723382.1:p.Asp4589CysfsTer24
XM_011527205.2:c.13707_13708del	XP_011525507.1:p.Asp4571CysfsTer24
NM_000540.3:c.13794_13795del MANE Select	NP_000531.2:p.Asp4600CysfsTer24
NM_001042723.2:c.13779_13780del	NP_001036188.1:p.Asp4595CysfsTer24