Canonical Allele Identifier: CA2335032379

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457512_38457528delinsTGCTCCCTGTGTGTGTG , CM000681.2:g.38457512_38457528delinsTGCTCCCTGTGTGTGTG	GRCh38
NC_000019.9:g.38948152_38948168delinsTGCTCCCTGTGTGTGTG , CM000681.1:g.38948152_38948168delinsTGCTCCCTGTGTGTGTG	GRCh37
NC_000019.8:g.43639992_43640008delinsTGCTCCCTGTGTGTGTG	NCBI36
NG_008866.1:g.28813_28829delinsTGCTCCCTGTGTGTGTG , LRG_766:g.28813_28829delinsTGCTCCCTGTGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1807_1823delinsTGCTCCCTGTGTGTGTG	ENSP00000471601.2:p.Cys603=
ENST00000359596.8:c.1807_1823delinsTGCTCCCTGTGTGTGTG MANE Select	ENSP00000352608.2:p.Cys603=
ENST00000355481.8:c.1807_1823delinsTGCTCCCTGTGTGTGTG	ENSP00000347667.3:p.Cys603=
ENST00000359596.7:c.1807_1823delinsTGCTCCCTGTGTGTGTG	ENSP00000352608.2:p.Cys603=
ENST00000360985.7:c.1807_1823delinsTGCTCCCTGTGTGTGTG	ENSP00000354254.4:p.Cys603=
NM_000540.2:c.1807_1823delinsTGCTCCCTGTGTGTGTG , LRG_766t1:c.1807_1823delinsTGCTCCCTGTGTGTGTG	NP_000531.2:p.Cys603=
NM_001042723.1:c.1807_1823delinsTGCTCCCTGTGTGTGTG	NP_001036188.1:p.Cys603=
XM_006723317.1:c.1807_1823delinsTGCTCCCTGTGTGTGTG	XP_006723380.1:p.Cys603=
XM_006723319.1:c.1807_1823delinsTGCTCCCTGTGTGTGTG	XP_006723382.1:p.Cys603=
XM_011527204.1:c.1804_1820delinsTGCTCCCTGTGTGTGTG	XP_011525506.1:p.Cys602=
XM_011527205.1:c.1807_1823delinsTGCTCCCTGTGTGTGTG	XP_011525507.1:p.Cys603=
XM_006723317.2:c.1807_1823delinsTGCTCCCTGTGTGTGTG	XP_006723380.1:p.Cys603=
XM_006723319.2:c.1807_1823delinsTGCTCCCTGTGTGTGTG	XP_006723382.1:p.Cys603=
XM_011527205.2:c.1807_1823delinsTGCTCCCTGTGTGTGTG	XP_011525507.1:p.Cys603=
XR_001753735.1:n.1890_1906delinsTGCTCCCTGTGTGTGTG
NM_000540.3:c.1807_1823delinsTGCTCCCTGTGTGTGTG MANE Select	NP_000531.2:p.Cys603=
NM_001042723.2:c.1807_1823delinsTGCTCCCTGTGTGTGTG	NP_001036188.1:p.Cys603=