Canonical Allele Identifier: CA2335088495

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572310_38572312delinsGCT , CM000681.2:g.38572310_38572312delinsGCT	GRCh38
NC_000019.9:g.39062950_39062952delinsGCT , CM000681.1:g.39062950_39062952delinsGCT	GRCh37
NC_000019.8:g.43754790_43754792delinsGCT	NCBI36
NG_008866.1:g.143611_143613delinsGCT , LRG_766:g.143611_143613delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+40_934+42delinsGCT
ENST00000688602.1:c.2331+40_2331+42delinsGCT
ENST00000689936.1:c.2303+40_2303+42delinsGCT
ENST00000359596.8:c.13998+40_13998+42delinsGCT MANE Select	ENSP00000352608.2:n.13998+40_13998+42delinsGCT
ENST00000355481.8:c.13983+40_13983+42delinsGCT	ENSP00000347667.3:n.13983+40_13983+42delinsGCT
ENST00000359596.7:c.13998+40_13998+42delinsGCT	ENSP00000352608.2:n.13998+40_13998+42delinsGCT
ENST00000360985.7:c.13980+40_13980+42delinsGCT	ENSP00000354254.4:n.13980+40_13980+42delinsGCT
NM_000540.2:c.13998+40_13998+42delinsGCT , LRG_766t1:c.13998+40_13998+42delinsGCT	NP_000531.2:n.13998+40_13998+42delinsGCT
NM_001042723.1:c.13983+40_13983+42delinsGCT	NP_001036188.1:n.13983+40_13983+42delinsGCT
XM_006723317.1:c.13980+40_13980+42delinsGCT	XP_006723380.1:n.13980+40_13980+42delinsGCT
XM_006723319.1:c.13965+40_13965+42delinsGCT	XP_006723382.1:n.13965+40_13965+42delinsGCT
XM_011527204.1:c.13995+40_13995+42delinsGCT	XP_011525506.1:n.13995+40_13995+42delinsGCT
XM_011527205.1:c.13911+40_13911+42delinsGCT	XP_011525507.1:n.13911+40_13911+42delinsGCT
XM_006723317.2:c.13980+40_13980+42delinsGCT	XP_006723380.1:n.13980+40_13980+42delinsGCT
XM_006723319.2:c.13965+40_13965+42delinsGCT	XP_006723382.1:n.13965+40_13965+42delinsGCT
XM_011527205.2:c.13911+40_13911+42delinsGCT	XP_011525507.1:n.13911+40_13911+42delinsGCT
NM_000540.3:c.13998+40_13998+42delinsGCT MANE Select	NP_000531.2:n.13998+40_13998+42delinsGCT
NM_001042723.2:c.13983+40_13983+42delinsGCT	NP_001036188.1:n.13983+40_13983+42delinsGCT