Canonical Allele Identifier: CA2335088346

Gene: RYR1

Linked Data

• dbSNP Id: rs1973735879

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572016del , CM000681.2:g.38572016del	GRCh38
NC_000019.9:g.39062656del , CM000681.1:g.39062656del	GRCh37
NC_000019.8:g.43754496del	NCBI36
NG_008866.1:g.143317del , LRG_766:g.143317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.683-3del
ENST00000688602.1:c.2080-3del
ENST00000689936.1:c.2052-3del
ENST00000359596.8:c.13747-3del MANE Select	ENSP00000352608.2:n.13747-3del
ENST00000355481.8:c.13732-3del	ENSP00000347667.3:n.13732-3del
ENST00000359596.7:c.13747-3del	ENSP00000352608.2:n.13747-3del
ENST00000360985.7:c.13729-3del	ENSP00000354254.4:n.13729-3del
ENST00000593677.1:c.207-3del
NM_000540.2:c.13747-3del , LRG_766t1:c.13747-3del	NP_000531.2:n.13747-3del
NM_001042723.1:c.13732-3del	NP_001036188.1:n.13732-3del
XM_006723317.1:c.13729-3del	XP_006723380.1:n.13729-3del
XM_006723319.1:c.13714-3del	XP_006723382.1:n.13714-3del
XM_011527204.1:c.13744-3del	XP_011525506.1:n.13744-3del
XM_011527205.1:c.13660-3del	XP_011525507.1:n.13660-3del
XM_006723317.2:c.13729-3del	XP_006723380.1:n.13729-3del
XM_006723319.2:c.13714-3del	XP_006723382.1:n.13714-3del
XM_011527205.2:c.13660-3del	XP_011525507.1:n.13660-3del
NM_000540.3:c.13747-3del MANE Select	NP_000531.2:n.13747-3del
NM_001042723.2:c.13732-3del	NP_001036188.1:n.13732-3del