Canonical Allele Identifier: CA2335092348

Gene: RYR1

Linked Data

• dbSNP Id: rs1974135698

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580196_38580207del , CM000681.2:g.38580196_38580207del	GRCh38
NC_000019.9:g.39070836_39070847del , CM000681.1:g.39070836_39070847del	GRCh37
NC_000019.8:g.43762676_43762687del	NCBI36
NG_008866.1:g.151497_151508del , LRG_766:g.151497_151508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1447+68_1447+79del
ENST00000688602.1:c.2844+68_2844+79del
ENST00000689936.1:c.2816+68_2816+79del
ENST00000359596.8:c.14511+68_14511+79del MANE Select	ENSP00000352608.2:n.14511+68_14511+79del
ENST00000355481.8:c.14496+68_14496+79del	ENSP00000347667.3:n.14496+68_14496+79del
ENST00000359596.7:c.14511+68_14511+79del	ENSP00000352608.2:n.14511+68_14511+79del
ENST00000360985.7:c.14493+68_14493+79del	ENSP00000354254.4:n.14493+68_14493+79del
NM_000540.2:c.14511+68_14511+79del , LRG_766t1:c.14511+68_14511+79del	NP_000531.2:n.14511+68_14511+79del
NM_001042723.1:c.14496+68_14496+79del	NP_001036188.1:n.14496+68_14496+79del
XM_006723317.1:c.14493+68_14493+79del	XP_006723380.1:n.14493+68_14493+79del
XM_006723319.1:c.14478+68_14478+79del	XP_006723382.1:n.14478+68_14478+79del
XM_011527204.1:c.14508+68_14508+79del	XP_011525506.1:n.14508+68_14508+79del
XM_011527205.1:c.14424+68_14424+79del	XP_011525507.1:n.14424+68_14424+79del
XM_006723317.2:c.14493+68_14493+79del	XP_006723380.1:n.14493+68_14493+79del
XM_006723319.2:c.14478+68_14478+79del	XP_006723382.1:n.14478+68_14478+79del
XM_011527205.2:c.14424+68_14424+79del	XP_011525507.1:n.14424+68_14424+79del
NM_000540.3:c.14511+68_14511+79del MANE Select	NP_000531.2:n.14511+68_14511+79del
NM_001042723.2:c.14496+68_14496+79del	NP_001036188.1:n.14496+68_14496+79del