Canonical Allele Identifier: CA2814333051

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38446661_38446666del , CM000681.2:g.38446661_38446666del	GRCh38
NC_000019.9:g.38937301_38937306del , CM000681.1:g.38937301_38937306del	GRCh37
NC_000019.8:g.43629141_43629146del	NCBI36
NG_008866.1:g.17962_17967del , LRG_766:g.17962_17967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.726-33_726-28del	ENSP00000471601.2:n.726-33_726-28del
ENST00000359596.8:c.726-33_726-28del MANE Select	ENSP00000352608.2:n.726-33_726-28del
ENST00000355481.8:c.726-33_726-28del	ENSP00000347667.3:n.726-33_726-28del
ENST00000359596.7:c.726-33_726-28del	ENSP00000352608.2:n.726-33_726-28del
ENST00000360985.7:c.726-33_726-28del	ENSP00000354254.4:n.726-33_726-28del
NM_000540.2:c.726-33_726-28del , LRG_766t1:c.726-33_726-28del	NP_000531.2:n.726-33_726-28del
NM_001042723.1:c.726-33_726-28del	NP_001036188.1:n.726-33_726-28del
XM_006723317.1:c.726-33_726-28del	XP_006723380.1:n.726-33_726-28del
XM_006723319.1:c.726-33_726-28del	XP_006723382.1:n.726-33_726-28del
XM_011527204.1:c.726-33_726-28del	XP_011525506.1:n.726-33_726-28del
XM_011527205.1:c.726-33_726-28del	XP_011525507.1:n.726-33_726-28del
XM_006723317.2:c.726-33_726-28del	XP_006723380.1:n.726-33_726-28del
XM_006723319.2:c.726-33_726-28del	XP_006723382.1:n.726-33_726-28del
XM_011527205.2:c.726-33_726-28del	XP_011525507.1:n.726-33_726-28del
XR_001753735.1:n.809-33_809-28del
NM_000540.3:c.726-33_726-28del MANE Select	NP_000531.2:n.726-33_726-28del
NM_001042723.2:c.726-33_726-28del	NP_001036188.1:n.726-33_726-28del