Canonical Allele Identifier: CA2533756138

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517581_38517582insGAGAT , CM000681.2:g.38517581_38517582insGAGAT	GRCh38
NC_000019.9:g.39008221_39008222insGAGAT , CM000681.1:g.39008221_39008222insGAGAT	GRCh37
NC_000019.8:g.43700061_43700062insGAGAT	NCBI36
NG_008866.1:g.88882_88883insGAGAT , LRG_766:g.88882_88883insGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9847_9848insGAGAT	ENSP00000471601.2:n.9847_9848insGAGAT
ENST00000359596.8:c.9908_9909insGAGAT MANE Select	ENSP00000352608.2:p.Cys3304ArgfsTer19
ENST00000355481.8:c.9908_9909insGAGAT	ENSP00000347667.3:p.Cys3304ArgfsTer19
ENST00000359596.7:c.9908_9909insGAGAT	ENSP00000352608.2:p.Cys3304ArgfsTer19
ENST00000360985.7:c.9905_9906insGAGAT	ENSP00000354254.4:p.Cys3303ArgfsTer19
ENST00000594335.5:c.3310_3311insGAGAT
ENST00000599547.5:c.715_716insGAGAT
NM_000540.2:c.9908_9909insGAGAT , LRG_766t1:c.9908_9909insGAGAT	NP_000531.2:p.Cys3304ArgfsTer19
NM_001042723.1:c.9908_9909insGAGAT	NP_001036188.1:p.Cys3304ArgfsTer19
XM_006723317.1:c.9908_9909insGAGAT	XP_006723380.1:p.Cys3304ArgfsTer19
XM_006723319.1:c.9908_9909insGAGAT	XP_006723382.1:p.Cys3304ArgfsTer19
XM_011527204.1:c.9905_9906insGAGAT	XP_011525506.1:p.Cys3303ArgfsTer19
XM_011527205.1:c.9908_9909insGAGAT	XP_011525507.1:p.Cys3304ArgfsTer19
XM_006723317.2:c.9908_9909insGAGAT	XP_006723380.1:p.Cys3304ArgfsTer19
XM_006723319.2:c.9908_9909insGAGAT	XP_006723382.1:p.Cys3304ArgfsTer19
XM_011527205.2:c.9908_9909insGAGAT	XP_011525507.1:p.Cys3304ArgfsTer19
NM_000540.3:c.9908_9909insGAGAT MANE Select	NP_000531.2:p.Cys3304ArgfsTer19
NM_001042723.2:c.9908_9909insGAGAT	NP_001036188.1:p.Cys3304ArgfsTer19