Canonical Allele Identifier: CA2741631218
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455322_38455342del , CM000681.2:g.38455322_38455342del GRCh38
NC_000019.9:g.38945962_38945982del , CM000681.1:g.38945962_38945982del GRCh37
NC_000019.8:g.43637802_43637822del NCBI36
NG_008866.1:g.26623_26643del , LRG_766:g.26623_26643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1528_1548del ENSP00000471601.2:p.Ala510_Glu516del
ENST00000359596.8:c.1528_1548del MANE Select ENSP00000352608.2:p.Ala510_Glu516del
ENST00000355481.8:c.1528_1548del ENSP00000347667.3:p.Ala510_Glu516del
ENST00000359596.7:c.1528_1548del ENSP00000352608.2:p.Ala510_Glu516del
ENST00000360985.7:c.1528_1548del ENSP00000354254.4:p.Ala510_Glu516del
NM_000540.2:c.1528_1548del , LRG_766t1:c.1528_1548del NP_000531.2:p.Ala510_Glu516del
NM_001042723.1:c.1528_1548del NP_001036188.1:p.Ala510_Glu516del
XM_006723317.1:c.1528_1548del XP_006723380.1:p.Ala510_Glu516del
XM_006723319.1:c.1528_1548del XP_006723382.1:p.Ala510_Glu516del
XM_011527204.1:c.1525_1545del XP_011525506.1:p.Ala509_Glu515del
XM_011527205.1:c.1528_1548del XP_011525507.1:p.Ala510_Glu516del
XM_006723317.2:c.1528_1548del XP_006723380.1:p.Ala510_Glu516del
XM_006723319.2:c.1528_1548del XP_006723382.1:p.Ala510_Glu516del
XM_011527205.2:c.1528_1548del XP_011525507.1:p.Ala510_Glu516del
XR_001753735.1:n.1611_1631del
NM_000540.3:c.1528_1548del MANE Select NP_000531.2:p.Ala510_Glu516del
NM_001042723.2:c.1528_1548del NP_001036188.1:p.Ala510_Glu516del
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