Canonical Allele Identifier: CA2584899832
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38499105-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499106del , CM000681.2:g.38499106del GRCh38
NC_000019.9:g.38989746del , CM000681.1:g.38989746del GRCh37
NC_000019.8:g.43681586del NCBI36
NG_008866.1:g.70407del , LRG_766:g.70407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6892-2del ENSP00000471601.2:n.6892-2del
ENST00000359596.8:c.6892-2del MANE Select ENSP00000352608.2:n.6892-2del
ENST00000355481.8:c.6892-2del ENSP00000347667.3:n.6892-2del
ENST00000359596.7:c.6892-2del ENSP00000352608.2:n.6892-2del
ENST00000360985.7:c.6889-2del ENSP00000354254.4:n.6889-2del
ENST00000594335.5:c.344-2del
NM_000540.2:c.6892-2del , LRG_766t1:c.6892-2del NP_000531.2:n.6892-2del
NM_001042723.1:c.6892-2del NP_001036188.1:n.6892-2del
XM_006723317.1:c.6892-2del XP_006723380.1:n.6892-2del
XM_006723319.1:c.6892-2del XP_006723382.1:n.6892-2del
XM_011527204.1:c.6889-2del XP_011525506.1:n.6889-2del
XM_011527205.1:c.6892-2del XP_011525507.1:n.6892-2del
XM_006723317.2:c.6892-2del XP_006723380.1:n.6892-2del
XM_006723319.2:c.6892-2del XP_006723382.1:n.6892-2del
XM_011527205.2:c.6892-2del XP_011525507.1:n.6892-2del
XR_001753735.1:n.6975-2del
NM_000540.3:c.6892-2del MANE Select NP_000531.2:n.6892-2del
NM_001042723.2:c.6892-2del NP_001036188.1:n.6892-2del
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