Canonical Allele Identifier: CA2335088447

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572210_38572216delinsTCTGAGC , CM000681.2:g.38572210_38572216delinsTCTGAGC	GRCh38
NC_000019.9:g.39062850_39062856delinsTCTGAGC , CM000681.1:g.39062850_39062856delinsTCTGAGC	GRCh37
NC_000019.8:g.43754690_43754696delinsTCTGAGC	NCBI36
NG_008866.1:g.143511_143517delinsTCTGAGC , LRG_766:g.143511_143517delinsTCTGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.874_880delinsTCTGAGC
ENST00000688602.1:c.2271_2277delinsTCTGAGC
ENST00000689936.1:c.2243_2249delinsTCTGAGC
ENST00000359596.8:c.13938_13944delinsTCTGAGC MANE Select	ENSP00000352608.2:p.Cys4646=
ENST00000355481.8:c.13923_13929delinsTCTGAGC	ENSP00000347667.3:p.Cys4641=
ENST00000359596.7:c.13938_13944delinsTCTGAGC	ENSP00000352608.2:p.Cys4646=
ENST00000360985.7:c.13920_13926delinsTCTGAGC	ENSP00000354254.4:p.Cys4640=
ENST00000593677.1:c.398_404delinsTCTGAGC
NM_000540.2:c.13938_13944delinsTCTGAGC , LRG_766t1:c.13938_13944delinsTCTGAGC	NP_000531.2:p.Cys4646=
NM_001042723.1:c.13923_13929delinsTCTGAGC	NP_001036188.1:p.Cys4641=
XM_006723317.1:c.13920_13926delinsTCTGAGC	XP_006723380.1:p.Cys4640=
XM_006723319.1:c.13905_13911delinsTCTGAGC	XP_006723382.1:p.Cys4635=
XM_011527204.1:c.13935_13941delinsTCTGAGC	XP_011525506.1:p.Cys4645=
XM_011527205.1:c.13851_13857delinsTCTGAGC	XP_011525507.1:p.Cys4617=
XM_006723317.2:c.13920_13926delinsTCTGAGC	XP_006723380.1:p.Cys4640=
XM_006723319.2:c.13905_13911delinsTCTGAGC	XP_006723382.1:p.Cys4635=
XM_011527205.2:c.13851_13857delinsTCTGAGC	XP_011525507.1:p.Cys4617=
NM_000540.3:c.13938_13944delinsTCTGAGC MANE Select	NP_000531.2:p.Cys4646=
NM_001042723.2:c.13923_13929delinsTCTGAGC	NP_001036188.1:p.Cys4641=