Canonical Allele Identifier: CA2584910697
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578030-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578031del , CM000681.2:g.38578031del GRCh38
NC_000019.9:g.39068671del , CM000681.1:g.39068671del GRCh37
NC_000019.8:g.43760511del NCBI36
NG_008866.1:g.149332del , LRG_766:g.149332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1222del
ENST00000688602.1:c.2619del
ENST00000689936.1:c.2591del
ENST00000359596.8:c.14286del MANE Select ENSP00000352608.2:p.Pro4763GlnfsTer4
ENST00000355481.8:c.14271del ENSP00000347667.3:p.Pro4758GlnfsTer4
ENST00000359596.7:c.14286del ENSP00000352608.2:p.Pro4763GlnfsTer4
ENST00000360985.7:c.14268del ENSP00000354254.4:p.Pro4757GlnfsTer4
NM_000540.2:c.14286del , LRG_766t1:c.14286del NP_000531.2:p.Pro4763GlnfsTer4
NM_001042723.1:c.14271del NP_001036188.1:p.Pro4758GlnfsTer4
XM_006723317.1:c.14268del XP_006723380.1:p.Pro4757GlnfsTer4
XM_006723319.1:c.14253del XP_006723382.1:p.Pro4752GlnfsTer4
XM_011527204.1:c.14283del XP_011525506.1:p.Pro4762GlnfsTer4
XM_011527205.1:c.14199del XP_011525507.1:p.Pro4734GlnfsTer4
XM_006723317.2:c.14268del XP_006723380.1:p.Pro4757GlnfsTer4
XM_006723319.2:c.14253del XP_006723382.1:p.Pro4752GlnfsTer4
XM_011527205.2:c.14199del XP_011525507.1:p.Pro4734GlnfsTer4
NM_000540.3:c.14286del MANE Select NP_000531.2:p.Pro4763GlnfsTer4
NM_001042723.2:c.14271del NP_001036188.1:p.Pro4758GlnfsTer4
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