Canonical Allele Identifier: CA2335094701

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584603_38584636delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT , CM000681.2:g.38584603_38584636delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	GRCh38
NC_000019.9:g.39075243_39075276delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT , CM000681.1:g.39075243_39075276delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	GRCh37
NC_000019.8:g.43767083_43767116delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	NCBI36
NG_008866.1:g.155904_155937delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT , LRG_766:g.155904_155937delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-340_1583-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT
ENST00000688602.1:c.2980-340_2980-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT
ENST00000689936.1:c.2952-340_2952-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT
ENST00000359596.8:c.14647-340_14647-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT MANE Select	ENSP00000352608.2:n.14647-340_14647-307delinsCCTGCCAGTGCCCCCC...
ENST00000355481.8:c.14632-340_14632-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	ENSP00000347667.3:n.14632-340_14632-307delinsCCTGCCAGTGCCCCCC...
ENST00000359596.7:c.14647-340_14647-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	ENSP00000352608.2:n.14647-340_14647-307delinsCCTGCCAGTGCCCCCC...
ENST00000360985.7:c.14629-340_14629-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	ENSP00000354254.4:n.14629-340_14629-307delinsCCTGCCAGTGCCCCCC...
NM_000540.2:c.14647-340_14647-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT , LRG_766t1:c.14647-340_14647-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	NP_000531.2:n.14647-340_14647-307delinsCCTGCCAGTGCCCCCCATCCCA...
NM_001042723.1:c.14632-340_14632-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	NP_001036188.1:n.14632-340_14632-307delinsCCTGCCAGTGCCCCCCATC...
XM_006723317.1:c.14629-340_14629-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	XP_006723380.1:n.14629-340_14629-307delinsCCTGCCAGTGCCCCCCATC...
XM_006723319.1:c.14614-340_14614-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	XP_006723382.1:n.14614-340_14614-307delinsCCTGCCAGTGCCCCCCATC...
XM_011527204.1:c.14644-340_14644-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	XP_011525506.1:n.14644-340_14644-307delinsCCTGCCAGTGCCCCCCATC...
XM_011527205.1:c.14560-340_14560-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	XP_011525507.1:n.14560-340_14560-307delinsCCTGCCAGTGCCCCCCATC...
XM_006723317.2:c.14629-340_14629-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	XP_006723380.1:n.14629-340_14629-307delinsCCTGCCAGTGCCCCCCATC...
XM_006723319.2:c.14614-340_14614-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	XP_006723382.1:n.14614-340_14614-307delinsCCTGCCAGTGCCCCCCATC...
XM_011527205.2:c.14560-340_14560-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	XP_011525507.1:n.14560-340_14560-307delinsCCTGCCAGTGCCCCCCATC...
NM_000540.3:c.14647-340_14647-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT MANE Select	NP_000531.2:n.14647-340_14647-307delinsCCTGCCAGTGCCCCCCATCCCA...
NM_001042723.2:c.14632-340_14632-307delinsCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCT	NP_001036188.1:n.14632-340_14632-307delinsCCTGCCAGTGCCCCCCATC...