Canonical Allele Identifier: CA2335094687

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584583_38584584delinsCT , CM000681.2:g.38584583_38584584delinsCT	GRCh38
NC_000019.9:g.39075223_39075224delinsCT , CM000681.1:g.39075223_39075224delinsCT	GRCh37
NC_000019.8:g.43767063_43767064delinsCT	NCBI36
NG_008866.1:g.155884_155885delinsCT , LRG_766:g.155884_155885delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-360_1583-359delinsCT
ENST00000688602.1:c.2980-360_2980-359delinsCT
ENST00000689936.1:c.2952-360_2952-359delinsCT
ENST00000359596.8:c.14647-360_14647-359delinsCT MANE Select	ENSP00000352608.2:n.14647-360_14647-359delinsCT
ENST00000355481.8:c.14632-360_14632-359delinsCT	ENSP00000347667.3:n.14632-360_14632-359delinsCT
ENST00000359596.7:c.14647-360_14647-359delinsCT	ENSP00000352608.2:n.14647-360_14647-359delinsCT
ENST00000360985.7:c.14629-360_14629-359delinsCT	ENSP00000354254.4:n.14629-360_14629-359delinsCT
NM_000540.2:c.14647-360_14647-359delinsCT , LRG_766t1:c.14647-360_14647-359delinsCT	NP_000531.2:n.14647-360_14647-359delinsCT
NM_001042723.1:c.14632-360_14632-359delinsCT	NP_001036188.1:n.14632-360_14632-359delinsCT
XM_006723317.1:c.14629-360_14629-359delinsCT	XP_006723380.1:n.14629-360_14629-359delinsCT
XM_006723319.1:c.14614-360_14614-359delinsCT	XP_006723382.1:n.14614-360_14614-359delinsCT
XM_011527204.1:c.14644-360_14644-359delinsCT	XP_011525506.1:n.14644-360_14644-359delinsCT
XM_011527205.1:c.14560-360_14560-359delinsCT	XP_011525507.1:n.14560-360_14560-359delinsCT
XM_006723317.2:c.14629-360_14629-359delinsCT	XP_006723380.1:n.14629-360_14629-359delinsCT
XM_006723319.2:c.14614-360_14614-359delinsCT	XP_006723382.1:n.14614-360_14614-359delinsCT
XM_011527205.2:c.14560-360_14560-359delinsCT	XP_011525507.1:n.14560-360_14560-359delinsCT
NM_000540.3:c.14647-360_14647-359delinsCT MANE Select	NP_000531.2:n.14647-360_14647-359delinsCT
NM_001042723.2:c.14632-360_14632-359delinsCT	NP_001036188.1:n.14632-360_14632-359delinsCT