Canonical Allele Identifier: CA2736032255
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs2145612413
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502425_38502446del , CM000681.2:g.38502425_38502446del GRCh38
NC_000019.9:g.38993065_38993086del , CM000681.1:g.38993065_38993086del GRCh37
NC_000019.8:g.43684905_43684926del NCBI36
NG_008866.1:g.73726_73747del , LRG_766:g.73726_73747del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7615-82_7615-61del ENSP00000471601.2:n.7615-82_7615-61del
ENST00000359596.8:c.7615-82_7615-61del MANE Select ENSP00000352608.2:n.7615-82_7615-61del
ENST00000355481.8:c.7615-82_7615-61del ENSP00000347667.3:n.7615-82_7615-61del
ENST00000359596.7:c.7615-82_7615-61del ENSP00000352608.2:n.7615-82_7615-61del
ENST00000360985.7:c.7612-82_7612-61del ENSP00000354254.4:n.7612-82_7612-61del
ENST00000594335.5:c.1067-82_1067-61del
NM_000540.2:c.7615-82_7615-61del , LRG_766t1:c.7615-82_7615-61del NP_000531.2:n.7615-82_7615-61del
NM_001042723.1:c.7615-82_7615-61del NP_001036188.1:n.7615-82_7615-61del
XM_006723317.1:c.7615-82_7615-61del XP_006723380.1:n.7615-82_7615-61del
XM_006723319.1:c.7615-82_7615-61del XP_006723382.1:n.7615-82_7615-61del
XM_011527204.1:c.7612-82_7612-61del XP_011525506.1:n.7612-82_7612-61del
XM_011527205.1:c.7615-82_7615-61del XP_011525507.1:n.7615-82_7615-61del
XM_006723317.2:c.7615-82_7615-61del XP_006723380.1:n.7615-82_7615-61del
XM_006723319.2:c.7615-82_7615-61del XP_006723382.1:n.7615-82_7615-61del
XM_011527205.2:c.7615-82_7615-61del XP_011525507.1:n.7615-82_7615-61del
XR_001753735.1:n.7698-82_7698-61del
NM_000540.3:c.7615-82_7615-61del MANE Select NP_000531.2:n.7615-82_7615-61del
NM_001042723.2:c.7615-82_7615-61del NP_001036188.1:n.7615-82_7615-61del
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