Canonical Allele Identifier: CA2814346174
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578067_38578068del , CM000681.2:g.38578067_38578068del GRCh38
NC_000019.9:g.39068707_39068708del , CM000681.1:g.39068707_39068708del GRCh37
NC_000019.8:g.43760547_43760548del NCBI36
NG_008866.1:g.149368_149369del , LRG_766:g.149368_149369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1239+19_1239+20del
ENST00000688602.1:c.2636+19_2636+20del
ENST00000689936.1:c.2608+19_2608+20del
ENST00000359596.8:c.14303+19_14303+20del MANE Select ENSP00000352608.2:n.14303+19_14303+20del
ENST00000355481.8:c.14288+19_14288+20del ENSP00000347667.3:n.14288+19_14288+20del
ENST00000359596.7:c.14303+19_14303+20del ENSP00000352608.2:n.14303+19_14303+20del
ENST00000360985.7:c.14285+19_14285+20del ENSP00000354254.4:n.14285+19_14285+20del
NM_000540.2:c.14303+19_14303+20del , LRG_766t1:c.14303+19_14303+20del NP_000531.2:n.14303+19_14303+20del
NM_001042723.1:c.14288+19_14288+20del NP_001036188.1:n.14288+19_14288+20del
XM_006723317.1:c.14285+19_14285+20del XP_006723380.1:n.14285+19_14285+20del
XM_006723319.1:c.14270+19_14270+20del XP_006723382.1:n.14270+19_14270+20del
XM_011527204.1:c.14300+19_14300+20del XP_011525506.1:n.14300+19_14300+20del
XM_011527205.1:c.14216+19_14216+20del XP_011525507.1:n.14216+19_14216+20del
XM_006723317.2:c.14285+19_14285+20del XP_006723380.1:n.14285+19_14285+20del
XM_006723319.2:c.14270+19_14270+20del XP_006723382.1:n.14270+19_14270+20del
XM_011527205.2:c.14216+19_14216+20del XP_011525507.1:n.14216+19_14216+20del
NM_000540.3:c.14303+19_14303+20del MANE Select NP_000531.2:n.14303+19_14303+20del
NM_001042723.2:c.14288+19_14288+20del NP_001036188.1:n.14288+19_14288+20del
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