Canonical Allele Identifier: CA2584909140

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565367-GCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565369_38565403del , CM000681.2:g.38565369_38565403del	GRCh38
NC_000019.9:g.39056009_39056043del , CM000681.1:g.39056009_39056043del	GRCh37
NC_000019.8:g.43747849_43747883del	NCBI36
NG_008866.1:g.136670_136704del , LRG_766:g.136670_136704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1445_1479del
ENST00000689936.1:c.1427_1461del
ENST00000359596.8:c.13035_13069del MANE Select	ENSP00000352608.2:p.Gly4347LeufsTer?
ENST00000355481.8:c.13020_13054del	ENSP00000347667.3:p.Gly4342LeufsTer?
ENST00000359596.7:c.13035_13069del	ENSP00000352608.2:p.Gly4347LeufsTer?
ENST00000360985.7:c.13017_13051del	ENSP00000354254.4:p.Gly4341LeufsTer?
NM_000540.2:c.13035_13069del , LRG_766t1:c.13035_13069del	NP_000531.2:p.Gly4347LeufsTer?
NM_001042723.1:c.13020_13054del	NP_001036188.1:p.Gly4342LeufsTer?
XM_006723317.1:c.13017_13051del	XP_006723380.1:p.Gly4341LeufsTer?
XM_006723319.1:c.13002_13036del	XP_006723382.1:p.Gly4336LeufsTer?
XM_011527204.1:c.13032_13066del	XP_011525506.1:p.Gly4346LeufsTer?
XM_011527205.1:c.13035_13069del	XP_011525507.1:p.Gly4347LeufsTer?
XM_006723317.2:c.13017_13051del	XP_006723380.1:p.Gly4341LeufsTer?
XM_006723319.2:c.13002_13036del	XP_006723382.1:p.Gly4336LeufsTer?
XM_011527205.2:c.13035_13069del	XP_011525507.1:p.Gly4347LeufsTer?
NM_000540.3:c.13035_13069del MANE Select	NP_000531.2:p.Gly4347LeufsTer?
NM_001042723.2:c.13020_13054del	NP_001036188.1:p.Gly4342LeufsTer?