Canonical Allele Identifier: CA9415841
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1970206743
ExAC: 19:38993396 CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA / C
gnomAD v3: 19-38502756-CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA-C
gnomAD v4: 19-38502756-CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA-C
MyVariant Identifiers: chr19:g.38993397_38993454del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502757_38502814del , CM000681.2:g.38502757_38502814del GRCh38
NC_000019.9:g.38993397_38993454del , CM000681.1:g.38993397_38993454del GRCh37
NC_000019.8:g.43685237_43685294del NCBI36
NG_008866.1:g.74058_74115del , LRG_766:g.74058_74115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+30_7836-66del ENSP00000471601.2:n.7835+30_7836-66del
ENST00000359596.8:c.7835+30_7836-66del MANE Select ENSP00000352608.2:n.7835+30_7836-66del
ENST00000355481.8:c.7835+30_7836-66del ENSP00000347667.3:n.7835+30_7836-66del
ENST00000359596.7:c.7835+30_7836-66del ENSP00000352608.2:n.7835+30_7836-66del
ENST00000360985.7:c.7832+30_7833-66del ENSP00000354254.4:n.7832+30_7833-66del
ENST00000594335.5:c.1287+30_1288-66del
NM_000540.2:c.7835+30_7836-66del , LRG_766t1:c.7835+30_7836-66del NP_000531.2:n.7835+30_7836-66del
NM_001042723.1:c.7835+30_7836-66del NP_001036188.1:n.7835+30_7836-66del
XM_006723317.1:c.7835+30_7836-66del XP_006723380.1:n.7835+30_7836-66del
XM_006723319.1:c.7835+30_7836-66del XP_006723382.1:n.7835+30_7836-66del
XM_011527204.1:c.7832+30_7833-66del XP_011525506.1:n.7832+30_7833-66del
XM_011527205.1:c.7835+30_7836-66del XP_011525507.1:n.7835+30_7836-66del
XM_006723317.2:c.7835+30_7836-66del XP_006723380.1:n.7835+30_7836-66del
XM_006723319.2:c.7835+30_7836-66del XP_006723382.1:n.7835+30_7836-66del
XM_011527205.2:c.7835+30_7836-66del XP_011525507.1:n.7835+30_7836-66del
XR_001753735.1:n.7918+30_7919-66del
NM_000540.3:c.7835+30_7836-66del MANE Select NP_000531.2:n.7835+30_7836-66del
NM_001042723.2:c.7835+30_7836-66del NP_001036188.1:n.7835+30_7836-66del
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