Canonical Allele Identifier: CA2584902838

Gene: RYR1

Linked Data

• gnomAD v4: 19-38510661-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510663del , CM000681.2:g.38510663del	GRCh38
NC_000019.9:g.39001303del , CM000681.1:g.39001303del	GRCh37
NC_000019.8:g.43693143del	NCBI36
NG_008866.1:g.81964del , LRG_766:g.81964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9004del	ENSP00000471601.2:p.Leu3002CysfsTer4
ENST00000359596.8:c.9004del MANE Select	ENSP00000352608.2:p.Leu3002CysfsTer4
ENST00000355481.8:c.9004del	ENSP00000347667.3:p.Leu3002CysfsTer4
ENST00000359596.7:c.9004del	ENSP00000352608.2:p.Leu3002CysfsTer4
ENST00000360985.7:c.9001del	ENSP00000354254.4:p.Leu3001CysfsTer4
ENST00000594335.5:c.2456del
NM_000540.2:c.9004del , LRG_766t1:c.9004del	NP_000531.2:p.Leu3002CysfsTer4
NM_001042723.1:c.9004del	NP_001036188.1:p.Leu3002CysfsTer4
XM_006723317.1:c.9004del	XP_006723380.1:p.Leu3002CysfsTer4
XM_006723319.1:c.9004del	XP_006723382.1:p.Leu3002CysfsTer4
XM_011527204.1:c.9001del	XP_011525506.1:p.Leu3001CysfsTer4
XM_011527205.1:c.9004del	XP_011525507.1:p.Leu3002CysfsTer4
XM_006723317.2:c.9004del	XP_006723380.1:p.Leu3002CysfsTer4
XM_006723319.2:c.9004del	XP_006723382.1:p.Leu3002CysfsTer4
XM_011527205.2:c.9004del	XP_011525507.1:p.Leu3002CysfsTer4
XR_001753735.1:n.9087del
NM_000540.3:c.9004del MANE Select	NP_000531.2:p.Leu3002CysfsTer4
NM_001042723.2:c.9004del	NP_001036188.1:p.Leu3002CysfsTer4