Canonical Allele Identifier: CA2584910040

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572202-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572203del , CM000681.2:g.38572203del	GRCh38
NC_000019.9:g.39062843del , CM000681.1:g.39062843del	GRCh37
NC_000019.8:g.43754683del	NCBI36
NG_008866.1:g.143504del , LRG_766:g.143504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.867del
ENST00000688602.1:c.2264del
ENST00000689936.1:c.2236del
ENST00000359596.8:c.13931del MANE Select	ENSP00000352608.2:p.Leu4644ArgfsTer4
ENST00000355481.8:c.13916del	ENSP00000347667.3:p.Leu4639ArgfsTer4
ENST00000359596.7:c.13931del	ENSP00000352608.2:p.Leu4644ArgfsTer4
ENST00000360985.7:c.13913del	ENSP00000354254.4:p.Leu4638ArgfsTer4
ENST00000593677.1:c.391del
NM_000540.2:c.13931del , LRG_766t1:c.13931del	NP_000531.2:p.Leu4644ArgfsTer4
NM_001042723.1:c.13916del	NP_001036188.1:p.Leu4639ArgfsTer4
XM_006723317.1:c.13913del	XP_006723380.1:p.Leu4638ArgfsTer4
XM_006723319.1:c.13898del	XP_006723382.1:p.Leu4633ArgfsTer4
XM_011527204.1:c.13928del	XP_011525506.1:p.Leu4643ArgfsTer4
XM_011527205.1:c.13844del	XP_011525507.1:p.Leu4615ArgfsTer4
XM_006723317.2:c.13913del	XP_006723380.1:p.Leu4638ArgfsTer4
XM_006723319.2:c.13898del	XP_006723382.1:p.Leu4633ArgfsTer4
XM_011527205.2:c.13844del	XP_011525507.1:p.Leu4615ArgfsTer4
NM_000540.3:c.13931del MANE Select	NP_000531.2:p.Leu4644ArgfsTer4
NM_001042723.2:c.13916del	NP_001036188.1:p.Leu4639ArgfsTer4