Canonical Allele Identifier: CA2335088969

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573183_38573184delinsCT , CM000681.2:g.38573183_38573184delinsCT	GRCh38
NC_000019.9:g.39063823_39063824delinsCT , CM000681.1:g.39063823_39063824delinsCT	GRCh37
NC_000019.8:g.43755663_43755664delinsCT	NCBI36
NG_008866.1:g.144484_144485delinsCT , LRG_766:g.144484_144485delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.941_942delinsCT
ENST00000688602.1:c.2338_2339delinsCT
ENST00000689936.1:c.2310_2311delinsCT
ENST00000359596.8:c.14005_14006delinsCT MANE Select	ENSP00000352608.2:p.Leu4669=
ENST00000355481.8:c.13990_13991delinsCT	ENSP00000347667.3:p.Leu4664=
ENST00000359596.7:c.14005_14006delinsCT	ENSP00000352608.2:p.Leu4669=
ENST00000360985.7:c.13987_13988delinsCT	ENSP00000354254.4:p.Leu4663=
NM_000540.2:c.14005_14006delinsCT , LRG_766t1:c.14005_14006delinsCT	NP_000531.2:p.Leu4669=
NM_001042723.1:c.13990_13991delinsCT	NP_001036188.1:p.Leu4664=
XM_006723317.1:c.13987_13988delinsCT	XP_006723380.1:p.Leu4663=
XM_006723319.1:c.13972_13973delinsCT	XP_006723382.1:p.Leu4658=
XM_011527204.1:c.14002_14003delinsCT	XP_011525506.1:p.Leu4668=
XM_011527205.1:c.13918_13919delinsCT	XP_011525507.1:p.Leu4640=
XM_006723317.2:c.13987_13988delinsCT	XP_006723380.1:p.Leu4663=
XM_006723319.2:c.13972_13973delinsCT	XP_006723382.1:p.Leu4658=
XM_011527205.2:c.13918_13919delinsCT	XP_011525507.1:p.Leu4640=
NM_000540.3:c.14005_14006delinsCT MANE Select	NP_000531.2:p.Leu4669=
NM_001042723.2:c.13990_13991delinsCT	NP_001036188.1:p.Leu4664=