Canonical Allele Identifier: CA2335052827

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499613_38499614delinsCT , CM000681.2:g.38499613_38499614delinsCT	GRCh38
NC_000019.9:g.38990253_38990254delinsCT , CM000681.1:g.38990253_38990254delinsCT	GRCh37
NC_000019.8:g.43682093_43682094delinsCT	NCBI36
NG_008866.1:g.70914_70915delinsCT , LRG_766:g.70914_70915delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7028-22_7028-21delinsCT	ENSP00000471601.2:n.7028-22_7028-21delinsCT
ENST00000359596.8:c.7028-22_7028-21delinsCT MANE Select	ENSP00000352608.2:n.7028-22_7028-21delinsCT
ENST00000355481.8:c.7028-22_7028-21delinsCT	ENSP00000347667.3:n.7028-22_7028-21delinsCT
ENST00000359596.7:c.7028-22_7028-21delinsCT	ENSP00000352608.2:n.7028-22_7028-21delinsCT
ENST00000360985.7:c.7025-22_7025-21delinsCT	ENSP00000354254.4:n.7025-22_7025-21delinsCT
ENST00000594335.5:c.480-22_480-21delinsCT
NM_000540.2:c.7028-22_7028-21delinsCT , LRG_766t1:c.7028-22_7028-21delinsCT	NP_000531.2:n.7028-22_7028-21delinsCT
NM_001042723.1:c.7028-22_7028-21delinsCT	NP_001036188.1:n.7028-22_7028-21delinsCT
XM_006723317.1:c.7028-22_7028-21delinsCT	XP_006723380.1:n.7028-22_7028-21delinsCT
XM_006723319.1:c.7028-22_7028-21delinsCT	XP_006723382.1:n.7028-22_7028-21delinsCT
XM_011527204.1:c.7025-22_7025-21delinsCT	XP_011525506.1:n.7025-22_7025-21delinsCT
XM_011527205.1:c.7028-22_7028-21delinsCT	XP_011525507.1:n.7028-22_7028-21delinsCT
XM_006723317.2:c.7028-22_7028-21delinsCT	XP_006723380.1:n.7028-22_7028-21delinsCT
XM_006723319.2:c.7028-22_7028-21delinsCT	XP_006723382.1:n.7028-22_7028-21delinsCT
XM_011527205.2:c.7028-22_7028-21delinsCT	XP_011525507.1:n.7028-22_7028-21delinsCT
XR_001753735.1:n.7111-22_7111-21delinsCT
NM_000540.3:c.7028-22_7028-21delinsCT MANE Select	NP_000531.2:n.7028-22_7028-21delinsCT
NM_001042723.2:c.7028-22_7028-21delinsCT	NP_001036188.1:n.7028-22_7028-21delinsCT