Canonical Allele Identifier: CA995718993
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v3: 19-38502840-CCTGG-C
gnomAD v4: 19-38502840-CCTGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502841_38502844del , CM000681.2:g.38502841_38502844del GRCh38
NC_000019.9:g.38993481_38993484del , CM000681.1:g.38993481_38993484del GRCh37
NC_000019.8:g.43685321_43685324del NCBI36
NG_008866.1:g.74142_74145del , LRG_766:g.74142_74145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-39_7836-36del ENSP00000471601.2:n.7836-39_7836-36del
ENST00000359596.8:c.7836-39_7836-36del MANE Select ENSP00000352608.2:n.7836-39_7836-36del
ENST00000355481.8:c.7836-39_7836-36del ENSP00000347667.3:n.7836-39_7836-36del
ENST00000359596.7:c.7836-39_7836-36del ENSP00000352608.2:n.7836-39_7836-36del
ENST00000360985.7:c.7833-39_7833-36del ENSP00000354254.4:n.7833-39_7833-36del
ENST00000594335.5:c.1288-39_1288-36del
NM_000540.2:c.7836-39_7836-36del , LRG_766t1:c.7836-39_7836-36del NP_000531.2:n.7836-39_7836-36del
NM_001042723.1:c.7836-39_7836-36del NP_001036188.1:n.7836-39_7836-36del
XM_006723317.1:c.7836-39_7836-36del XP_006723380.1:n.7836-39_7836-36del
XM_006723319.1:c.7836-39_7836-36del XP_006723382.1:n.7836-39_7836-36del
XM_011527204.1:c.7833-39_7833-36del XP_011525506.1:n.7833-39_7833-36del
XM_011527205.1:c.7836-39_7836-36del XP_011525507.1:n.7836-39_7836-36del
XM_006723317.2:c.7836-39_7836-36del XP_006723380.1:n.7836-39_7836-36del
XM_006723319.2:c.7836-39_7836-36del XP_006723382.1:n.7836-39_7836-36del
XM_011527205.2:c.7836-39_7836-36del XP_011525507.1:n.7836-39_7836-36del
XR_001753735.1:n.7919-39_7919-36del
NM_000540.3:c.7836-39_7836-36del MANE Select NP_000531.2:n.7836-39_7836-36del
NM_001042723.2:c.7836-39_7836-36del NP_001036188.1:n.7836-39_7836-36del
Search 100 bp 5'
Search 100 bp 3'