Canonical Allele Identifier: CA2584900601
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502682-AGGC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502684_38502686del , CM000681.2:g.38502684_38502686del GRCh38
NC_000019.9:g.38993324_38993326del , CM000681.1:g.38993324_38993326del GRCh37
NC_000019.8:g.43685164_43685166del NCBI36
NG_008866.1:g.73985_73987del , LRG_766:g.73985_73987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7792_7794del ENSP00000471601.2:p.Ala2598del
ENST00000359596.8:c.7792_7794del MANE Select ENSP00000352608.2:p.Ala2598del
ENST00000355481.8:c.7792_7794del ENSP00000347667.3:p.Ala2598del
ENST00000359596.7:c.7792_7794del ENSP00000352608.2:p.Ala2598del
ENST00000360985.7:c.7789_7791del ENSP00000354254.4:p.Ala2597del
ENST00000594335.5:c.1244_1246del
NM_000540.2:c.7792_7794del , LRG_766t1:c.7792_7794del NP_000531.2:p.Ala2598del
NM_001042723.1:c.7792_7794del NP_001036188.1:p.Ala2598del
XM_006723317.1:c.7792_7794del XP_006723380.1:p.Ala2598del
XM_006723319.1:c.7792_7794del XP_006723382.1:p.Ala2598del
XM_011527204.1:c.7789_7791del XP_011525506.1:p.Ala2597del
XM_011527205.1:c.7792_7794del XP_011525507.1:p.Ala2598del
XM_006723317.2:c.7792_7794del XP_006723380.1:p.Ala2598del
XM_006723319.2:c.7792_7794del XP_006723382.1:p.Ala2598del
XM_011527205.2:c.7792_7794del XP_011525507.1:p.Ala2598del
XR_001753735.1:n.7875_7877del
NM_000540.3:c.7792_7794del MANE Select NP_000531.2:p.Ala2598del
NM_001042723.2:c.7792_7794del NP_001036188.1:p.Ala2598del
Search 100 bp 5'
Search 100 bp 3'