Canonical Allele Identifier: CA2335094600

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584476_38584680delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG , CM000681.2:g.38584476_38584680delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	GRCh38
NC_000019.9:g.39075116_39075320delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG , CM000681.1:g.39075116_39075320delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	GRCh37
NC_000019.8:g.43766956_43767160delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	NCBI36
NG_008866.1:g.155777_155981delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG , LRG_766:g.155777_155981delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-467_1583-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG
ENST00000688602.1:c.2980-467_2980-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG
ENST00000689936.1:c.2952-467_2952-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG
ENST00000359596.8:c.14647-467_14647-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG MANE Select	ENSP00000352608.2:n.14647-467_14647-263delinsACCCCCCATTCCAGCC...
ENST00000355481.8:c.14632-467_14632-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	ENSP00000347667.3:n.14632-467_14632-263delinsACCCCCCATTCCAGCC...
ENST00000359596.7:c.14647-467_14647-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	ENSP00000352608.2:n.14647-467_14647-263delinsACCCCCCATTCCAGCC...
ENST00000360985.7:c.14629-467_14629-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	ENSP00000354254.4:n.14629-467_14629-263delinsACCCCCCATTCCAGCC...
NM_000540.2:c.14647-467_14647-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG , LRG_766t1:c.14647-467_14647-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	NP_000531.2:n.14647-467_14647-263delinsACCCCCCATTCCAGCCCTGACC...
NM_001042723.1:c.14632-467_14632-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	NP_001036188.1:n.14632-467_14632-263delinsACCCCCCATTCCAGCCCTG...
XM_006723317.1:c.14629-467_14629-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	XP_006723380.1:n.14629-467_14629-263delinsACCCCCCATTCCAGCCCTG...
XM_006723319.1:c.14614-467_14614-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	XP_006723382.1:n.14614-467_14614-263delinsACCCCCCATTCCAGCCCTG...
XM_011527204.1:c.14644-467_14644-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	XP_011525506.1:n.14644-467_14644-263delinsACCCCCCATTCCAGCCCTG...
XM_011527205.1:c.14560-467_14560-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	XP_011525507.1:n.14560-467_14560-263delinsACCCCCCATTCCAGCCCTG...
XM_006723317.2:c.14629-467_14629-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	XP_006723380.1:n.14629-467_14629-263delinsACCCCCCATTCCAGCCCTG...
XM_006723319.2:c.14614-467_14614-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	XP_006723382.1:n.14614-467_14614-263delinsACCCCCCATTCCAGCCCTG...
XM_011527205.2:c.14560-467_14560-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	XP_011525507.1:n.14560-467_14560-263delinsACCCCCCATTCCAGCCCTG...
NM_000540.3:c.14647-467_14647-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG MANE Select	NP_000531.2:n.14647-467_14647-263delinsACCCCCCATTCCAGCCCTGACC...
NM_001042723.2:c.14632-467_14632-263delinsACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG	NP_001036188.1:n.14632-467_14632-263delinsACCCCCCATTCCAGCCCTG...