Canonical Allele Identifier: CA2584900561
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502465-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502469del , CM000681.2:g.38502469del GRCh38
NC_000019.9:g.38993109del , CM000681.1:g.38993109del GRCh37
NC_000019.8:g.43684949del NCBI36
NG_008866.1:g.73770del , LRG_766:g.73770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7615-38del ENSP00000471601.2:n.7615-38del
ENST00000359596.8:c.7615-38del MANE Select ENSP00000352608.2:n.7615-38del
ENST00000355481.8:c.7615-38del ENSP00000347667.3:n.7615-38del
ENST00000359596.7:c.7615-38del ENSP00000352608.2:n.7615-38del
ENST00000360985.7:c.7612-38del ENSP00000354254.4:n.7612-38del
ENST00000594335.5:c.1067-38del
NM_000540.2:c.7615-38del , LRG_766t1:c.7615-38del NP_000531.2:n.7615-38del
NM_001042723.1:c.7615-38del NP_001036188.1:n.7615-38del
XM_006723317.1:c.7615-38del XP_006723380.1:n.7615-38del
XM_006723319.1:c.7615-38del XP_006723382.1:n.7615-38del
XM_011527204.1:c.7612-38del XP_011525506.1:n.7612-38del
XM_011527205.1:c.7615-38del XP_011525507.1:n.7615-38del
XM_006723317.2:c.7615-38del XP_006723380.1:n.7615-38del
XM_006723319.2:c.7615-38del XP_006723382.1:n.7615-38del
XM_011527205.2:c.7615-38del XP_011525507.1:n.7615-38del
XR_001753735.1:n.7698-38del
NM_000540.3:c.7615-38del MANE Select NP_000531.2:n.7615-38del
NM_001042723.2:c.7615-38del NP_001036188.1:n.7615-38del
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