Canonical Allele Identifier: CA2584900089

Gene: RYR1

Linked Data

• gnomAD v4: 19-38499917-G-GGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499918_38499920dup , CM000681.2:g.38499918_38499920dup	GRCh38
NC_000019.9:g.38990558_38990560dup , CM000681.1:g.38990558_38990560dup	GRCh37
NC_000019.8:g.43682398_43682400dup	NCBI36
NG_008866.1:g.71219_71221dup , LRG_766:g.71219_71221dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7225_7227dup	ENSP00000471601.2:p.Glu2409_Pro2410insGlu...
ENST00000359596.8:c.7225_7227dup MANE Select	ENSP00000352608.2:p.Glu2409_Pro2410insGlu...
ENST00000355481.8:c.7225_7227dup	ENSP00000347667.3:p.Glu2409_Pro2410insGlu...
ENST00000359596.7:c.7225_7227dup	ENSP00000352608.2:p.Glu2409_Pro2410insGlu...
ENST00000360985.7:c.7222_7224dup	ENSP00000354254.4:p.Glu2408_Pro2409insGlu...
ENST00000594335.5:c.677_679dup
NM_000540.2:c.7225_7227dup , LRG_766t1:c.7225_7227dup	NP_000531.2:p.Glu2409_Pro2410insGlu
NM_001042723.1:c.7225_7227dup	NP_001036188.1:p.Glu2409_Pro2410insGlu
XM_006723317.1:c.7225_7227dup	XP_006723380.1:p.Glu2409_Pro2410insGlu
XM_006723319.1:c.7225_7227dup	XP_006723382.1:p.Glu2409_Pro2410insGlu
XM_011527204.1:c.7222_7224dup	XP_011525506.1:p.Glu2408_Pro2409insGlu
XM_011527205.1:c.7225_7227dup	XP_011525507.1:p.Glu2409_Pro2410insGlu
XM_006723317.2:c.7225_7227dup	XP_006723380.1:p.Glu2409_Pro2410insGlu
XM_006723319.2:c.7225_7227dup	XP_006723382.1:p.Glu2409_Pro2410insGlu
XM_011527205.2:c.7225_7227dup	XP_011525507.1:p.Glu2409_Pro2410insGlu
XR_001753735.1:n.7308_7310dup
NM_000540.3:c.7225_7227dup MANE Select	NP_000531.2:p.Glu2409_Pro2410insGlu
NM_001042723.2:c.7225_7227dup	NP_001036188.1:p.Glu2409_Pro2410insGlu