Canonical Allele Identifier: CA2335094658

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584550_38584686delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , CM000681.2:g.38584550_38584686delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	GRCh38
NC_000019.9:g.39075190_39075326delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , CM000681.1:g.39075190_39075326delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	GRCh37
NC_000019.8:g.43767030_43767166delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NCBI36
NG_008866.1:g.155851_155987delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , LRG_766:g.155851_155987delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-393_1583-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC
ENST00000688602.1:c.2980-393_2980-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC
ENST00000689936.1:c.2952-393_2952-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC
ENST00000359596.8:c.14647-393_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC MANE Select	ENSP00000352608.2:n.14647-393_14647-257delinsTATCCTGGCCCTGACC...
ENST00000355481.8:c.14632-393_14632-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	ENSP00000347667.3:n.14632-393_14632-257delinsTATCCTGGCCCTGACC...
ENST00000359596.7:c.14647-393_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	ENSP00000352608.2:n.14647-393_14647-257delinsTATCCTGGCCCTGACC...
ENST00000360985.7:c.14629-393_14629-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	ENSP00000354254.4:n.14629-393_14629-257delinsTATCCTGGCCCTGACC...
NM_000540.2:c.14647-393_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , LRG_766t1:c.14647-393_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NP_000531.2:n.14647-393_14647-257delinsTATCCTGGCCCTGACCCCTCTG...
NM_001042723.1:c.14632-393_14632-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NP_001036188.1:n.14632-393_14632-257delinsTATCCTGGCCCTGACCCCT...
XM_006723317.1:c.14629-393_14629-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723380.1:n.14629-393_14629-257delinsTATCCTGGCCCTGACCCCT...
XM_006723319.1:c.14614-393_14614-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723382.1:n.14614-393_14614-257delinsTATCCTGGCCCTGACCCCT...
XM_011527204.1:c.14644-393_14644-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_011525506.1:n.14644-393_14644-257delinsTATCCTGGCCCTGACCCCT...
XM_011527205.1:c.14560-393_14560-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_011525507.1:n.14560-393_14560-257delinsTATCCTGGCCCTGACCCCT...
XM_006723317.2:c.14629-393_14629-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723380.1:n.14629-393_14629-257delinsTATCCTGGCCCTGACCCCT...
XM_006723319.2:c.14614-393_14614-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723382.1:n.14614-393_14614-257delinsTATCCTGGCCCTGACCCCT...
XM_011527205.2:c.14560-393_14560-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_011525507.1:n.14560-393_14560-257delinsTATCCTGGCCCTGACCCCT...
NM_000540.3:c.14647-393_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC MANE Select	NP_000531.2:n.14647-393_14647-257delinsTATCCTGGCCCTGACCCCTCTG...
NM_001042723.2:c.14632-393_14632-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NP_001036188.1:n.14632-393_14632-257delinsTATCCTGGCCCTGACCCCT...