Canonical Allele Identifier: CA2335094686

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584583_38584585delinsCTT , CM000681.2:g.38584583_38584585delinsCTT	GRCh38
NC_000019.9:g.39075223_39075225delinsCTT , CM000681.1:g.39075223_39075225delinsCTT	GRCh37
NC_000019.8:g.43767063_43767065delinsCTT	NCBI36
NG_008866.1:g.155884_155886delinsCTT , LRG_766:g.155884_155886delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-360_1583-358delinsCTT
ENST00000688602.1:c.2980-360_2980-358delinsCTT
ENST00000689936.1:c.2952-360_2952-358delinsCTT
ENST00000359596.8:c.14647-360_14647-358delinsCTT MANE Select	ENSP00000352608.2:n.14647-360_14647-358delinsCTT
ENST00000355481.8:c.14632-360_14632-358delinsCTT	ENSP00000347667.3:n.14632-360_14632-358delinsCTT
ENST00000359596.7:c.14647-360_14647-358delinsCTT	ENSP00000352608.2:n.14647-360_14647-358delinsCTT
ENST00000360985.7:c.14629-360_14629-358delinsCTT	ENSP00000354254.4:n.14629-360_14629-358delinsCTT
NM_000540.2:c.14647-360_14647-358delinsCTT , LRG_766t1:c.14647-360_14647-358delinsCTT	NP_000531.2:n.14647-360_14647-358delinsCTT
NM_001042723.1:c.14632-360_14632-358delinsCTT	NP_001036188.1:n.14632-360_14632-358delinsCTT
XM_006723317.1:c.14629-360_14629-358delinsCTT	XP_006723380.1:n.14629-360_14629-358delinsCTT
XM_006723319.1:c.14614-360_14614-358delinsCTT	XP_006723382.1:n.14614-360_14614-358delinsCTT
XM_011527204.1:c.14644-360_14644-358delinsCTT	XP_011525506.1:n.14644-360_14644-358delinsCTT
XM_011527205.1:c.14560-360_14560-358delinsCTT	XP_011525507.1:n.14560-360_14560-358delinsCTT
XM_006723317.2:c.14629-360_14629-358delinsCTT	XP_006723380.1:n.14629-360_14629-358delinsCTT
XM_006723319.2:c.14614-360_14614-358delinsCTT	XP_006723382.1:n.14614-360_14614-358delinsCTT
XM_011527205.2:c.14560-360_14560-358delinsCTT	XP_011525507.1:n.14560-360_14560-358delinsCTT
NM_000540.3:c.14647-360_14647-358delinsCTT MANE Select	NP_000531.2:n.14647-360_14647-358delinsCTT
NM_001042723.2:c.14632-360_14632-358delinsCTT	NP_001036188.1:n.14632-360_14632-358delinsCTT