Canonical Allele Identifier: CA2740096903

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3015766
• ClinVar RCV Id: RCV003873853

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565542_38565544del , CM000681.2:g.38565542_38565544del	GRCh38
NC_000019.9:g.39056182_39056184del , CM000681.1:g.39056182_39056184del	GRCh37
NC_000019.8:g.43748022_43748024del	NCBI36
NG_008866.1:g.136843_136845del , LRG_766:g.136843_136845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.144_146del
ENST00000688602.1:c.1618_1620del
ENST00000689936.1:c.1600_1602del
ENST00000359596.8:c.13208_13210del MANE Select	ENSP00000352608.2:p.Ala4403del
ENST00000355481.8:c.13193_13195del	ENSP00000347667.3:p.Ala4398del
ENST00000359596.7:c.13208_13210del	ENSP00000352608.2:p.Ala4403del
ENST00000360985.7:c.13190_13192del	ENSP00000354254.4:p.Ala4397del
NM_000540.2:c.13208_13210del , LRG_766t1:c.13208_13210del	NP_000531.2:p.Ala4403del
NM_001042723.1:c.13193_13195del	NP_001036188.1:p.Ala4398del
XM_006723317.1:c.13190_13192del	XP_006723380.1:p.Ala4397del
XM_006723319.1:c.13175_13177del	XP_006723382.1:p.Ala4392del
XM_011527204.1:c.13205_13207del	XP_011525506.1:p.Ala4402del
XM_011527205.1:c.13208_13210del	XP_011525507.1:p.Ala4403del
XM_006723317.2:c.13190_13192del	XP_006723380.1:p.Ala4397del
XM_006723319.2:c.13175_13177del	XP_006723382.1:p.Ala4392del
XM_011527205.2:c.13208_13210del	XP_011525507.1:p.Ala4403del
NM_000540.3:c.13208_13210del MANE Select	NP_000531.2:p.Ala4403del
NM_001042723.2:c.13193_13195del	NP_001036188.1:p.Ala4398del