Canonical Allele Identifier: CA2335094747

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584651_38584652delinsCT , CM000681.2:g.38584651_38584652delinsCT	GRCh38
NC_000019.9:g.39075291_39075292delinsCT , CM000681.1:g.39075291_39075292delinsCT	GRCh37
NC_000019.8:g.43767131_43767132delinsCT	NCBI36
NG_008866.1:g.155952_155953delinsCT , LRG_766:g.155952_155953delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-292_1583-291delinsCT
ENST00000688602.1:c.2980-292_2980-291delinsCT
ENST00000689936.1:c.2952-292_2952-291delinsCT
ENST00000359596.8:c.14647-292_14647-291delinsCT MANE Select	ENSP00000352608.2:n.14647-292_14647-291delinsCT
ENST00000355481.8:c.14632-292_14632-291delinsCT	ENSP00000347667.3:n.14632-292_14632-291delinsCT
ENST00000359596.7:c.14647-292_14647-291delinsCT	ENSP00000352608.2:n.14647-292_14647-291delinsCT
ENST00000360985.7:c.14629-292_14629-291delinsCT	ENSP00000354254.4:n.14629-292_14629-291delinsCT
NM_000540.2:c.14647-292_14647-291delinsCT , LRG_766t1:c.14647-292_14647-291delinsCT	NP_000531.2:n.14647-292_14647-291delinsCT
NM_001042723.1:c.14632-292_14632-291delinsCT	NP_001036188.1:n.14632-292_14632-291delinsCT
XM_006723317.1:c.14629-292_14629-291delinsCT	XP_006723380.1:n.14629-292_14629-291delinsCT
XM_006723319.1:c.14614-292_14614-291delinsCT	XP_006723382.1:n.14614-292_14614-291delinsCT
XM_011527204.1:c.14644-292_14644-291delinsCT	XP_011525506.1:n.14644-292_14644-291delinsCT
XM_011527205.1:c.14560-292_14560-291delinsCT	XP_011525507.1:n.14560-292_14560-291delinsCT
XM_006723317.2:c.14629-292_14629-291delinsCT	XP_006723380.1:n.14629-292_14629-291delinsCT
XM_006723319.2:c.14614-292_14614-291delinsCT	XP_006723382.1:n.14614-292_14614-291delinsCT
XM_011527205.2:c.14560-292_14560-291delinsCT	XP_011525507.1:n.14560-292_14560-291delinsCT
NM_000540.3:c.14647-292_14647-291delinsCT MANE Select	NP_000531.2:n.14647-292_14647-291delinsCT
NM_001042723.2:c.14632-292_14632-291delinsCT	NP_001036188.1:n.14632-292_14632-291delinsCT