Canonical Allele Identifier: CA2576770264
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446594del , CM000681.2:g.38446594del GRCh38
NC_000019.9:g.38937234del , CM000681.1:g.38937234del GRCh37
NC_000019.8:g.43629074del NCBI36
NG_008866.1:g.17895del , LRG_766:g.17895del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.725+29del ENSP00000471601.2:n.725+29del
ENST00000359596.8:c.725+29del MANE Select ENSP00000352608.2:n.725+29del
ENST00000355481.8:c.725+29del ENSP00000347667.3:n.725+29del
ENST00000359596.7:c.725+29del ENSP00000352608.2:n.725+29del
ENST00000360985.7:c.725+29del ENSP00000354254.4:n.725+29del
NM_000540.2:c.725+29del , LRG_766t1:c.725+29del NP_000531.2:n.725+29del
NM_001042723.1:c.725+29del NP_001036188.1:n.725+29del
XM_006723317.1:c.725+29del XP_006723380.1:n.725+29del
XM_006723319.1:c.725+29del XP_006723382.1:n.725+29del
XM_011527204.1:c.725+29del XP_011525506.1:n.725+29del
XM_011527205.1:c.725+29del XP_011525507.1:n.725+29del
XM_006723317.2:c.725+29del XP_006723380.1:n.725+29del
XM_006723319.2:c.725+29del XP_006723382.1:n.725+29del
XM_011527205.2:c.725+29del XP_011525507.1:n.725+29del
XR_001753735.1:n.808+29del
NM_000540.3:c.725+29del MANE Select NP_000531.2:n.725+29del
NM_001042723.2:c.725+29del NP_001036188.1:n.725+29del
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