Canonical Allele Identifier: CA2584901110
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502838-GGCCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502840_38502843del , CM000681.2:g.38502840_38502843del GRCh38
NC_000019.9:g.38993480_38993483del , CM000681.1:g.38993480_38993483del GRCh37
NC_000019.8:g.43685320_43685323del NCBI36
NG_008866.1:g.74141_74144del , LRG_766:g.74141_74144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-40_7836-37del ENSP00000471601.2:n.7836-40_7836-37del
ENST00000359596.8:c.7836-40_7836-37del MANE Select ENSP00000352608.2:n.7836-40_7836-37del
ENST00000355481.8:c.7836-40_7836-37del ENSP00000347667.3:n.7836-40_7836-37del
ENST00000359596.7:c.7836-40_7836-37del ENSP00000352608.2:n.7836-40_7836-37del
ENST00000360985.7:c.7833-40_7833-37del ENSP00000354254.4:n.7833-40_7833-37del
ENST00000594335.5:c.1288-40_1288-37del
NM_000540.2:c.7836-40_7836-37del , LRG_766t1:c.7836-40_7836-37del NP_000531.2:n.7836-40_7836-37del
NM_001042723.1:c.7836-40_7836-37del NP_001036188.1:n.7836-40_7836-37del
XM_006723317.1:c.7836-40_7836-37del XP_006723380.1:n.7836-40_7836-37del
XM_006723319.1:c.7836-40_7836-37del XP_006723382.1:n.7836-40_7836-37del
XM_011527204.1:c.7833-40_7833-37del XP_011525506.1:n.7833-40_7833-37del
XM_011527205.1:c.7836-40_7836-37del XP_011525507.1:n.7836-40_7836-37del
XM_006723317.2:c.7836-40_7836-37del XP_006723380.1:n.7836-40_7836-37del
XM_006723319.2:c.7836-40_7836-37del XP_006723382.1:n.7836-40_7836-37del
XM_011527205.2:c.7836-40_7836-37del XP_011525507.1:n.7836-40_7836-37del
XR_001753735.1:n.7919-40_7919-37del
NM_000540.3:c.7836-40_7836-37del MANE Select NP_000531.2:n.7836-40_7836-37del
NM_001042723.2:c.7836-40_7836-37del NP_001036188.1:n.7836-40_7836-37del
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