Canonical Allele Identifier: CA2584909158

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565525-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565528del , CM000681.2:g.38565528del	GRCh38
NC_000019.9:g.39056168del , CM000681.1:g.39056168del	GRCh37
NC_000019.8:g.43748008del	NCBI36
NG_008866.1:g.136829del , LRG_766:g.136829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.130del
ENST00000688602.1:c.1604del
ENST00000689936.1:c.1586del
ENST00000359596.8:c.13194del MANE Select	ENSP00000352608.2:p.Pro4399ArgfsTer?
ENST00000355481.8:c.13179del	ENSP00000347667.3:p.Pro4394ArgfsTer?
ENST00000359596.7:c.13194del	ENSP00000352608.2:p.Pro4399ArgfsTer?
ENST00000360985.7:c.13176del	ENSP00000354254.4:p.Pro4393ArgfsTer?
NM_000540.2:c.13194del , LRG_766t1:c.13194del	NP_000531.2:p.Pro4399ArgfsTer?
NM_001042723.1:c.13179del	NP_001036188.1:p.Pro4394ArgfsTer?
XM_006723317.1:c.13176del	XP_006723380.1:p.Pro4393ArgfsTer?
XM_006723319.1:c.13161del	XP_006723382.1:p.Pro4388ArgfsTer?
XM_011527204.1:c.13191del	XP_011525506.1:p.Pro4398ArgfsTer?
XM_011527205.1:c.13194del	XP_011525507.1:p.Pro4399ArgfsTer?
XM_006723317.2:c.13176del	XP_006723380.1:p.Pro4393ArgfsTer?
XM_006723319.2:c.13161del	XP_006723382.1:p.Pro4388ArgfsTer?
XM_011527205.2:c.13194del	XP_011525507.1:p.Pro4399ArgfsTer?
NM_000540.3:c.13194del MANE Select	NP_000531.2:p.Pro4399ArgfsTer?
NM_001042723.2:c.13179del	NP_001036188.1:p.Pro4394ArgfsTer?