Canonical Allele Identifier: CA2502087441
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577929_38577933del , CM000681.2:g.38577929_38577933del GRCh38
NC_000019.9:g.39068569_39068573del , CM000681.1:g.39068569_39068573del GRCh37
NC_000019.8:g.43760409_43760413del NCBI36
NG_008866.1:g.149230_149234del , LRG_766:g.149230_149234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1120_1124del
ENST00000688602.1:c.2517_2521del
ENST00000689936.1:c.2489_2493del
ENST00000359596.8:c.14184_14188del MANE Select ENSP00000352608.2:p.His4729GlyfsTer10
ENST00000355481.8:c.14169_14173del ENSP00000347667.3:p.His4724GlyfsTer10
ENST00000359596.7:c.14184_14188del ENSP00000352608.2:p.His4729GlyfsTer10
ENST00000360985.7:c.14166_14170del ENSP00000354254.4:p.His4723GlyfsTer10
NM_000540.2:c.14184_14188del , LRG_766t1:c.14184_14188del NP_000531.2:p.His4729GlyfsTer10
NM_001042723.1:c.14169_14173del NP_001036188.1:p.His4724GlyfsTer10
XM_006723317.1:c.14166_14170del XP_006723380.1:p.His4723GlyfsTer10
XM_006723319.1:c.14151_14155del XP_006723382.1:p.His4718GlyfsTer10
XM_011527204.1:c.14181_14185del XP_011525506.1:p.His4728GlyfsTer10
XM_011527205.1:c.14097_14101del XP_011525507.1:p.His4700GlyfsTer10
XM_006723317.2:c.14166_14170del XP_006723380.1:p.His4723GlyfsTer10
XM_006723319.2:c.14151_14155del XP_006723382.1:p.His4718GlyfsTer10
XM_011527205.2:c.14097_14101del XP_011525507.1:p.His4700GlyfsTer10
NM_000540.3:c.14184_14188del MANE Select NP_000531.2:p.His4729GlyfsTer10
NM_001042723.2:c.14169_14173del NP_001036188.1:p.His4724GlyfsTer10
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