Canonical Allele Identifier: CA2335053046

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499998_38500000delinsCTG , CM000681.2:g.38499998_38500000delinsCTG	GRCh38
NC_000019.9:g.38990638_38990640delinsCTG , CM000681.1:g.38990638_38990640delinsCTG	GRCh37
NC_000019.8:g.43682478_43682480delinsCTG	NCBI36
NG_008866.1:g.71299_71301delinsCTG , LRG_766:g.71299_71301delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7305_7307delinsCTG	ENSP00000471601.2:p.Arg2435=
ENST00000359596.8:c.7305_7307delinsCTG MANE Select	ENSP00000352608.2:p.Arg2435=
ENST00000355481.8:c.7305_7307delinsCTG	ENSP00000347667.3:p.Arg2435=
ENST00000359596.7:c.7305_7307delinsCTG	ENSP00000352608.2:p.Arg2435=
ENST00000360985.7:c.7302_7304delinsCTG	ENSP00000354254.4:p.Arg2434=
ENST00000594335.5:c.757_759delinsCTG
NM_000540.2:c.7305_7307delinsCTG , LRG_766t1:c.7305_7307delinsCTG	NP_000531.2:p.Arg2435=
NM_001042723.1:c.7305_7307delinsCTG	NP_001036188.1:p.Arg2435=
XM_006723317.1:c.7305_7307delinsCTG	XP_006723380.1:p.Arg2435=
XM_006723319.1:c.7305_7307delinsCTG	XP_006723382.1:p.Arg2435=
XM_011527204.1:c.7302_7304delinsCTG	XP_011525506.1:p.Arg2434=
XM_011527205.1:c.7305_7307delinsCTG	XP_011525507.1:p.Arg2435=
XM_006723317.2:c.7305_7307delinsCTG	XP_006723380.1:p.Arg2435=
XM_006723319.2:c.7305_7307delinsCTG	XP_006723382.1:p.Arg2435=
XM_011527205.2:c.7305_7307delinsCTG	XP_011525507.1:p.Arg2435=
XR_001753735.1:n.7388_7390delinsCTG
NM_000540.3:c.7305_7307delinsCTG MANE Select	NP_000531.2:p.Arg2435=
NM_001042723.2:c.7305_7307delinsCTG	NP_001036188.1:p.Arg2435=