Canonical Allele Identifier: CA2814346164
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578015_38578020dup , CM000681.2:g.38578015_38578020dup GRCh38
NC_000019.9:g.39068655_39068660dup , CM000681.1:g.39068655_39068660dup GRCh37
NC_000019.8:g.43760495_43760500dup NCBI36
NG_008866.1:g.149316_149321dup , LRG_766:g.149316_149321dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1206_1211dup
ENST00000688602.1:c.2603_2608dup
ENST00000689936.1:c.2575_2580dup
ENST00000359596.8:c.14270_14275dup MANE Select ENSP00000352608.2:p.Lys4758_Pro4759insArgLys
ENST00000355481.8:c.14255_14260dup ENSP00000347667.3:p.Lys4753_Pro4754insArgLys
ENST00000359596.7:c.14270_14275dup ENSP00000352608.2:p.Lys4758_Pro4759insArgLys
ENST00000360985.7:c.14252_14257dup ENSP00000354254.4:p.Lys4752_Pro4753insArgLys
NM_000540.2:c.14270_14275dup , LRG_766t1:c.14270_14275dup NP_000531.2:p.Lys4758_Pro4759insArgLys
NM_001042723.1:c.14255_14260dup NP_001036188.1:p.Lys4753_Pro4754insArgLys
XM_006723317.1:c.14252_14257dup XP_006723380.1:p.Lys4752_Pro4753insArgLys
XM_006723319.1:c.14237_14242dup XP_006723382.1:p.Lys4747_Pro4748insArgLys
XM_011527204.1:c.14267_14272dup XP_011525506.1:p.Lys4757_Pro4758insArgLys
XM_011527205.1:c.14183_14188dup XP_011525507.1:p.Lys4729_Pro4730insArgLys
XM_006723317.2:c.14252_14257dup XP_006723380.1:p.Lys4752_Pro4753insArgLys
XM_006723319.2:c.14237_14242dup XP_006723382.1:p.Lys4747_Pro4748insArgLys
XM_011527205.2:c.14183_14188dup XP_011525507.1:p.Lys4729_Pro4730insArgLys
NM_000540.3:c.14270_14275dup MANE Select NP_000531.2:p.Lys4758_Pro4759insArgLys
NM_001042723.2:c.14255_14260dup NP_001036188.1:p.Lys4753_Pro4754insArgLys
Search 100 bp 5'
Search 100 bp 3'