Canonical Allele Identifier: CA081667

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38485568_38485569del , CM000681.2:g.38485568_38485569del	GRCh38
NC_000019.9:g.38976208_38976209del , CM000681.1:g.38976208_38976209del	GRCh37
NC_000019.8:g.43668048_43668049del	NCBI36
NG_008866.1:g.56869_56870del , LRG_766:g.56869_56870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.4935-22_4935-21del	ENSP00000471601.2:n.4935-22_4935-21del
ENST00000359596.8:c.4935-22_4935-21del MANE Select	ENSP00000352608.2:n.4935-22_4935-21del
ENST00000355481.8:c.4935-22_4935-21del	ENSP00000347667.3:n.4935-22_4935-21del
ENST00000359596.7:c.4935-22_4935-21del	ENSP00000352608.2:n.4935-22_4935-21del
ENST00000360985.7:c.4932-22_4932-21del	ENSP00000354254.4:n.4932-22_4932-21del
NM_000540.2:c.4935-22_4935-21del , LRG_766t1:c.4935-22_4935-21del	NP_000531.2:n.4935-22_4935-21del
NM_001042723.1:c.4935-22_4935-21del	NP_001036188.1:n.4935-22_4935-21del
XM_006723317.1:c.4935-22_4935-21del	XP_006723380.1:n.4935-22_4935-21del
XM_006723319.1:c.4935-22_4935-21del	XP_006723382.1:n.4935-22_4935-21del
XM_011527204.1:c.4932-22_4932-21del	XP_011525506.1:n.4932-22_4932-21del
XM_011527205.1:c.4935-22_4935-21del	XP_011525507.1:n.4935-22_4935-21del
XM_006723317.2:c.4935-22_4935-21del	XP_006723380.1:n.4935-22_4935-21del
XM_006723319.2:c.4935-22_4935-21del	XP_006723382.1:n.4935-22_4935-21del
XM_011527205.2:c.4935-22_4935-21del	XP_011525507.1:n.4935-22_4935-21del
XR_001753735.1:n.5018-22_5018-21del
NM_000540.3:c.4935-22_4935-21del MANE Select	NP_000531.2:n.4935-22_4935-21del
NM_001042723.2:c.4935-22_4935-21del	NP_001036188.1:n.4935-22_4935-21del