Canonical Allele Identifier: CA2584910082

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572310-GCTGGGTGGGGGTGGGGGCAGTGCTGGAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572315_38572344del , CM000681.2:g.38572315_38572344del	GRCh38
NC_000019.9:g.39062955_39062984del , CM000681.1:g.39062955_39062984del	GRCh37
NC_000019.8:g.43754795_43754824del	NCBI36
NG_008866.1:g.143616_143645del , LRG_766:g.143616_143645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+45_934+74del
ENST00000688602.1:c.2331+45_2331+74del
ENST00000689936.1:c.2303+45_2303+74del
ENST00000359596.8:c.13998+45_13998+74del MANE Select	ENSP00000352608.2:n.13998+45_13998+74del
ENST00000355481.8:c.13983+45_13983+74del	ENSP00000347667.3:n.13983+45_13983+74del
ENST00000359596.7:c.13998+45_13998+74del	ENSP00000352608.2:n.13998+45_13998+74del
ENST00000360985.7:c.13980+45_13980+74del	ENSP00000354254.4:n.13980+45_13980+74del
NM_000540.2:c.13998+45_13998+74del , LRG_766t1:c.13998+45_13998+74del	NP_000531.2:n.13998+45_13998+74del
NM_001042723.1:c.13983+45_13983+74del	NP_001036188.1:n.13983+45_13983+74del
XM_006723317.1:c.13980+45_13980+74del	XP_006723380.1:n.13980+45_13980+74del
XM_006723319.1:c.13965+45_13965+74del	XP_006723382.1:n.13965+45_13965+74del
XM_011527204.1:c.13995+45_13995+74del	XP_011525506.1:n.13995+45_13995+74del
XM_011527205.1:c.13911+45_13911+74del	XP_011525507.1:n.13911+45_13911+74del
XM_006723317.2:c.13980+45_13980+74del	XP_006723380.1:n.13980+45_13980+74del
XM_006723319.2:c.13965+45_13965+74del	XP_006723382.1:n.13965+45_13965+74del
XM_011527205.2:c.13911+45_13911+74del	XP_011525507.1:n.13911+45_13911+74del
NM_000540.3:c.13998+45_13998+74del MANE Select	NP_000531.2:n.13998+45_13998+74del
NM_001042723.2:c.13983+45_13983+74del	NP_001036188.1:n.13983+45_13983+74del