Canonical Allele Identifier: CA2584909111

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565117-GGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565120_38565122del , CM000681.2:g.38565120_38565122del	GRCh38
NC_000019.9:g.39055760_39055762del , CM000681.1:g.39055760_39055762del	GRCh37
NC_000019.8:g.43747600_43747602del	NCBI36
NG_008866.1:g.136421_136423del , LRG_766:g.136421_136423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1196_1198del
ENST00000689936.1:c.1178_1180del
ENST00000359596.8:c.12786_12788del MANE Select	ENSP00000352608.2:p.Asp4262del
ENST00000355481.8:c.12771_12773del	ENSP00000347667.3:p.Asp4257del
ENST00000359596.7:c.12786_12788del	ENSP00000352608.2:p.Asp4262del
ENST00000360985.7:c.12768_12770del	ENSP00000354254.4:p.Asp4256del
ENST00000594335.5:c.6155_6157del
NM_000540.2:c.12786_12788del , LRG_766t1:c.12786_12788del	NP_000531.2:p.Asp4262del
NM_001042723.1:c.12771_12773del	NP_001036188.1:p.Asp4257del
XM_006723317.1:c.12768_12770del	XP_006723380.1:p.Asp4256del
XM_006723319.1:c.12753_12755del	XP_006723382.1:p.Asp4251del
XM_011527204.1:c.12783_12785del	XP_011525506.1:p.Asp4261del
XM_011527205.1:c.12786_12788del	XP_011525507.1:p.Asp4262del
XM_006723317.2:c.12768_12770del	XP_006723380.1:p.Asp4256del
XM_006723319.2:c.12753_12755del	XP_006723382.1:p.Asp4251del
XM_011527205.2:c.12786_12788del	XP_011525507.1:p.Asp4262del
NM_000540.3:c.12786_12788del MANE Select	NP_000531.2:p.Asp4262del
NM_001042723.2:c.12771_12773del	NP_001036188.1:p.Asp4257del