Canonical Allele Identifier: CA2584908059

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543275-GAATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543279_38543282del , CM000681.2:g.38543279_38543282del	GRCh38
NC_000019.9:g.39033919_39033922del , CM000681.1:g.39033919_39033922del	GRCh37
NC_000019.8:g.43725759_43725762del	NCBI36
NG_008866.1:g.114580_114583del , LRG_766:g.114580_114583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.100-68_100-65del
ENST00000689936.1:c.82-68_82-65del
ENST00000359596.8:c.11690-68_11690-65del MANE Select	ENSP00000352608.2:n.11690-68_11690-65del
ENST00000355481.8:c.11675-68_11675-65del	ENSP00000347667.3:n.11675-68_11675-65del
ENST00000359596.7:c.11690-68_11690-65del	ENSP00000352608.2:n.11690-68_11690-65del
ENST00000360985.7:c.11672-68_11672-65del	ENSP00000354254.4:n.11672-68_11672-65del
ENST00000593322.1:c.299-68_299-65del
ENST00000594335.5:c.5059-68_5059-65del
NM_000540.2:c.11690-68_11690-65del , LRG_766t1:c.11690-68_11690-65del	NP_000531.2:n.11690-68_11690-65del
NM_001042723.1:c.11675-68_11675-65del	NP_001036188.1:n.11675-68_11675-65del
XM_006723317.1:c.11672-68_11672-65del	XP_006723380.1:n.11672-68_11672-65del
XM_006723319.1:c.11657-68_11657-65del	XP_006723382.1:n.11657-68_11657-65del
XM_011527204.1:c.11687-68_11687-65del	XP_011525506.1:n.11687-68_11687-65del
XM_011527205.1:c.11690-68_11690-65del	XP_011525507.1:n.11690-68_11690-65del
XM_006723317.2:c.11672-68_11672-65del	XP_006723380.1:n.11672-68_11672-65del
XM_006723319.2:c.11657-68_11657-65del	XP_006723382.1:n.11657-68_11657-65del
XM_011527205.2:c.11690-68_11690-65del	XP_011525507.1:n.11690-68_11690-65del
NM_000540.3:c.11690-68_11690-65del MANE Select	NP_000531.2:n.11690-68_11690-65del
NM_001042723.2:c.11675-68_11675-65del	NP_001036188.1:n.11675-68_11675-65del