Canonical Allele Identifier: CA2584909136

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565286-CGGCGGCTGCGGCGGCTTACGGCCCGCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565293_38565320del , CM000681.2:g.38565293_38565320del	GRCh38
NC_000019.9:g.39055933_39055960del , CM000681.1:g.39055933_39055960del	GRCh37
NC_000019.8:g.43747773_43747800del	NCBI36
NG_008866.1:g.136594_136621del , LRG_766:g.136594_136621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1369_1396del
ENST00000689936.1:c.1351_1378del
ENST00000359596.8:c.12959_12986del MANE Select	ENSP00000352608.2:p.Leu4320ProfsTer12
ENST00000355481.8:c.12944_12971del	ENSP00000347667.3:p.Leu4315ProfsTer12
ENST00000359596.7:c.12959_12986del	ENSP00000352608.2:p.Leu4320ProfsTer12
ENST00000360985.7:c.12941_12968del	ENSP00000354254.4:p.Leu4314ProfsTer12
NM_000540.2:c.12959_12986del , LRG_766t1:c.12959_12986del	NP_000531.2:p.Leu4320ProfsTer12
NM_001042723.1:c.12944_12971del	NP_001036188.1:p.Leu4315ProfsTer12
XM_006723317.1:c.12941_12968del	XP_006723380.1:p.Leu4314ProfsTer12
XM_006723319.1:c.12926_12953del	XP_006723382.1:p.Leu4309ProfsTer12
XM_011527204.1:c.12956_12983del	XP_011525506.1:p.Leu4319ProfsTer12
XM_011527205.1:c.12959_12986del	XP_011525507.1:p.Leu4320ProfsTer12
XM_006723317.2:c.12941_12968del	XP_006723380.1:p.Leu4314ProfsTer12
XM_006723319.2:c.12926_12953del	XP_006723382.1:p.Leu4309ProfsTer12
XM_011527205.2:c.12959_12986del	XP_011525507.1:p.Leu4320ProfsTer12
NM_000540.3:c.12959_12986del MANE Select	NP_000531.2:p.Leu4320ProfsTer12
NM_001042723.2:c.12944_12971del	NP_001036188.1:p.Leu4315ProfsTer12