Canonical Allele Identifier: CA2335094681

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584577_38584578delinsGC , CM000681.2:g.38584577_38584578delinsGC	GRCh38
NC_000019.9:g.39075217_39075218delinsGC , CM000681.1:g.39075217_39075218delinsGC	GRCh37
NC_000019.8:g.43767057_43767058delinsGC	NCBI36
NG_008866.1:g.155878_155879delinsGC , LRG_766:g.155878_155879delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-366_1583-365delinsGC
ENST00000688602.1:c.2980-366_2980-365delinsGC
ENST00000689936.1:c.2952-366_2952-365delinsGC
ENST00000359596.8:c.14647-366_14647-365delinsGC MANE Select	ENSP00000352608.2:n.14647-366_14647-365delinsGC
ENST00000355481.8:c.14632-366_14632-365delinsGC	ENSP00000347667.3:n.14632-366_14632-365delinsGC
ENST00000359596.7:c.14647-366_14647-365delinsGC	ENSP00000352608.2:n.14647-366_14647-365delinsGC
ENST00000360985.7:c.14629-366_14629-365delinsGC	ENSP00000354254.4:n.14629-366_14629-365delinsGC
NM_000540.2:c.14647-366_14647-365delinsGC , LRG_766t1:c.14647-366_14647-365delinsGC	NP_000531.2:n.14647-366_14647-365delinsGC
NM_001042723.1:c.14632-366_14632-365delinsGC	NP_001036188.1:n.14632-366_14632-365delinsGC
XM_006723317.1:c.14629-366_14629-365delinsGC	XP_006723380.1:n.14629-366_14629-365delinsGC
XM_006723319.1:c.14614-366_14614-365delinsGC	XP_006723382.1:n.14614-366_14614-365delinsGC
XM_011527204.1:c.14644-366_14644-365delinsGC	XP_011525506.1:n.14644-366_14644-365delinsGC
XM_011527205.1:c.14560-366_14560-365delinsGC	XP_011525507.1:n.14560-366_14560-365delinsGC
XM_006723317.2:c.14629-366_14629-365delinsGC	XP_006723380.1:n.14629-366_14629-365delinsGC
XM_006723319.2:c.14614-366_14614-365delinsGC	XP_006723382.1:n.14614-366_14614-365delinsGC
XM_011527205.2:c.14560-366_14560-365delinsGC	XP_011525507.1:n.14560-366_14560-365delinsGC
NM_000540.3:c.14647-366_14647-365delinsGC MANE Select	NP_000531.2:n.14647-366_14647-365delinsGC
NM_001042723.2:c.14632-366_14632-365delinsGC	NP_001036188.1:n.14632-366_14632-365delinsGC