Canonical Allele Identifier: CA2335088483

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572296_38572297delinsGC , CM000681.2:g.38572296_38572297delinsGC	GRCh38
NC_000019.9:g.39062936_39062937delinsGC , CM000681.1:g.39062936_39062937delinsGC	GRCh37
NC_000019.8:g.43754776_43754777delinsGC	NCBI36
NG_008866.1:g.143597_143598delinsGC , LRG_766:g.143597_143598delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+26_934+27delinsGC
ENST00000688602.1:c.2331+26_2331+27delinsGC
ENST00000689936.1:c.2303+26_2303+27delinsGC
ENST00000359596.8:c.13998+26_13998+27delinsGC MANE Select	ENSP00000352608.2:n.13998+26_13998+27delinsGC
ENST00000355481.8:c.13983+26_13983+27delinsGC	ENSP00000347667.3:n.13983+26_13983+27delinsGC
ENST00000359596.7:c.13998+26_13998+27delinsGC	ENSP00000352608.2:n.13998+26_13998+27delinsGC
ENST00000360985.7:c.13980+26_13980+27delinsGC	ENSP00000354254.4:n.13980+26_13980+27delinsGC
NM_000540.2:c.13998+26_13998+27delinsGC , LRG_766t1:c.13998+26_13998+27delinsGC	NP_000531.2:n.13998+26_13998+27delinsGC
NM_001042723.1:c.13983+26_13983+27delinsGC	NP_001036188.1:n.13983+26_13983+27delinsGC
XM_006723317.1:c.13980+26_13980+27delinsGC	XP_006723380.1:n.13980+26_13980+27delinsGC
XM_006723319.1:c.13965+26_13965+27delinsGC	XP_006723382.1:n.13965+26_13965+27delinsGC
XM_011527204.1:c.13995+26_13995+27delinsGC	XP_011525506.1:n.13995+26_13995+27delinsGC
XM_011527205.1:c.13911+26_13911+27delinsGC	XP_011525507.1:n.13911+26_13911+27delinsGC
XM_006723317.2:c.13980+26_13980+27delinsGC	XP_006723380.1:n.13980+26_13980+27delinsGC
XM_006723319.2:c.13965+26_13965+27delinsGC	XP_006723382.1:n.13965+26_13965+27delinsGC
XM_011527205.2:c.13911+26_13911+27delinsGC	XP_011525507.1:n.13911+26_13911+27delinsGC
NM_000540.3:c.13998+26_13998+27delinsGC MANE Select	NP_000531.2:n.13998+26_13998+27delinsGC
NM_001042723.2:c.13983+26_13983+27delinsGC	NP_001036188.1:n.13983+26_13983+27delinsGC