Canonical Allele Identifier: CA082202

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496912_38496913insCCCGTCCAGGCCTGCCCC , CM000681.2:g.38496912_38496913insCCCGTCCAGGCCTGCCCC	GRCh38
NC_000019.9:g.38987552_38987553insCCCGTCCAGGCCTGCCCC , CM000681.1:g.38987552_38987553insCCCGTCCAGGCCTGCCCC	GRCh37
NC_000019.8:g.43679392_43679393insCCCGTCCAGGCCTGCCCC	NCBI36
NG_008866.1:g.68213_68214insCCCGTCCAGGCCTGCCCC , LRG_766:g.68213_68214insCCCGTCCAGGCCTGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6849_6850insCCCGTCCAGGCCTGCCCC	ENSP00000471601.2:p.Asn2283_Asn2284insProValGlnAlaCysPro
ENST00000359596.8:c.6849_6850insCCCGTCCAGGCCTGCCCC MANE Select	ENSP00000352608.2:p.Asn2283_Asn2284insProValGlnAlaCysPro
ENST00000355481.8:c.6849_6850insCCCGTCCAGGCCTGCCCC	ENSP00000347667.3:p.Asn2283_Asn2284insProValGlnAlaCysPro
ENST00000359596.7:c.6849_6850insCCCGTCCAGGCCTGCCCC	ENSP00000352608.2:p.Asn2283_Asn2284insProValGlnAlaCysPro
ENST00000360985.7:c.6846_6847insCCCGTCCAGGCCTGCCCC	ENSP00000354254.4:p.Asn2282_Asn2283insProValGlnAlaCysPro
ENST00000594335.5:c.301_302insCCCGTCCAGGCCTGCCCC
NM_000540.2:c.6849_6850insCCCGTCCAGGCCTGCCCC , LRG_766t1:c.6849_6850insCCCGTCCAGGCCTGCCCC	NP_000531.2:p.Asn2283_Asn2284insProValGlnAlaCysPro
NM_001042723.1:c.6849_6850insCCCGTCCAGGCCTGCCCC	NP_001036188.1:p.Asn2283_Asn2284insProValGlnAlaCysPro
XM_006723317.1:c.6849_6850insCCCGTCCAGGCCTGCCCC	XP_006723380.1:p.Asn2283_Asn2284insProValGlnAlaCysPro
XM_006723319.1:c.6849_6850insCCCGTCCAGGCCTGCCCC	XP_006723382.1:p.Asn2283_Asn2284insProValGlnAlaCysPro
XM_011527204.1:c.6846_6847insCCCGTCCAGGCCTGCCCC	XP_011525506.1:p.Asn2282_Asn2283insProValGlnAlaCysPro
XM_011527205.1:c.6849_6850insCCCGTCCAGGCCTGCCCC	XP_011525507.1:p.Asn2283_Asn2284insProValGlnAlaCysPro
XM_006723317.2:c.6849_6850insCCCGTCCAGGCCTGCCCC	XP_006723380.1:p.Asn2283_Asn2284insProValGlnAlaCysPro
XM_006723319.2:c.6849_6850insCCCGTCCAGGCCTGCCCC	XP_006723382.1:p.Asn2283_Asn2284insProValGlnAlaCysPro
XM_011527205.2:c.6849_6850insCCCGTCCAGGCCTGCCCC	XP_011525507.1:p.Asn2283_Asn2284insProValGlnAlaCysPro
XR_001753735.1:n.6932_6933insCCCGTCCAGGCCTGCCCC
NM_000540.3:c.6849_6850insCCCGTCCAGGCCTGCCCC MANE Select	NP_000531.2:p.Asn2283_Asn2284insProValGlnAlaCysPro
NM_001042723.2:c.6849_6850insCCCGTCCAGGCCTGCCCC	NP_001036188.1:p.Asn2283_Asn2284insProValGlnAlaCysPro