Canonical Allele Identifier: CA2335046223

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38485769_38485777delinsCACTGCGCG , CM000681.2:g.38485769_38485777delinsCACTGCGCG	GRCh38
NC_000019.9:g.38976409_38976417delinsCACTGCGCG , CM000681.1:g.38976409_38976417delinsCACTGCGCG	GRCh37
NC_000019.8:g.43668249_43668257delinsCACTGCGCG	NCBI36
NG_008866.1:g.57070_57078delinsCACTGCGCG , LRG_766:g.57070_57078delinsCACTGCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.5114_5122delinsCACTGCGCG	ENSP00000471601.2:p.Pro1705=
ENST00000359596.8:c.5114_5122delinsCACTGCGCG MANE Select	ENSP00000352608.2:p.Pro1705=
ENST00000355481.8:c.5114_5122delinsCACTGCGCG	ENSP00000347667.3:p.Pro1705=
ENST00000359596.7:c.5114_5122delinsCACTGCGCG	ENSP00000352608.2:p.Pro1705=
ENST00000360985.7:c.5111_5119delinsCACTGCGCG	ENSP00000354254.4:p.Pro1704=
NM_000540.2:c.5114_5122delinsCACTGCGCG , LRG_766t1:c.5114_5122delinsCACTGCGCG	NP_000531.2:p.Pro1705=
NM_001042723.1:c.5114_5122delinsCACTGCGCG	NP_001036188.1:p.Pro1705=
XM_006723317.1:c.5114_5122delinsCACTGCGCG	XP_006723380.1:p.Pro1705=
XM_006723319.1:c.5114_5122delinsCACTGCGCG	XP_006723382.1:p.Pro1705=
XM_011527204.1:c.5111_5119delinsCACTGCGCG	XP_011525506.1:p.Pro1704=
XM_011527205.1:c.5114_5122delinsCACTGCGCG	XP_011525507.1:p.Pro1705=
XM_006723317.2:c.5114_5122delinsCACTGCGCG	XP_006723380.1:p.Pro1705=
XM_006723319.2:c.5114_5122delinsCACTGCGCG	XP_006723382.1:p.Pro1705=
XM_011527205.2:c.5114_5122delinsCACTGCGCG	XP_011525507.1:p.Pro1705=
XR_001753735.1:n.5197_5205delinsCACTGCGCG
NM_000540.3:c.5114_5122delinsCACTGCGCG MANE Select	NP_000531.2:p.Pro1705=
NM_001042723.2:c.5114_5122delinsCACTGCGCG	NP_001036188.1:p.Pro1705=