Canonical Allele Identifier: CA2537586552
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565015_38565027del , CM000681.2:g.38565015_38565027del GRCh38
NC_000019.9:g.39055655_39055667del , CM000681.1:g.39055655_39055667del GRCh37
NC_000019.8:g.43747495_43747507del NCBI36
NG_008866.1:g.136316_136328del , LRG_766:g.136316_136328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1091_1103del
ENST00000689936.1:c.1073_1085del
ENST00000359596.8:c.12681_12693del MANE Select ENSP00000352608.2:p.Glu4228SerfsTer3
ENST00000355481.8:c.12666_12678del ENSP00000347667.3:p.Glu4223SerfsTer3
ENST00000359596.7:c.12681_12693del ENSP00000352608.2:p.Glu4228SerfsTer3
ENST00000360985.7:c.12663_12675del ENSP00000354254.4:p.Glu4222SerfsTer3
ENST00000594335.5:c.6050_6062del
NM_000540.2:c.12681_12693del , LRG_766t1:c.12681_12693del NP_000531.2:p.Glu4228SerfsTer3
NM_001042723.1:c.12666_12678del NP_001036188.1:p.Glu4223SerfsTer3
XM_006723317.1:c.12663_12675del XP_006723380.1:p.Glu4222SerfsTer3
XM_006723319.1:c.12648_12660del XP_006723382.1:p.Glu4217SerfsTer3
XM_011527204.1:c.12678_12690del XP_011525506.1:p.Glu4227SerfsTer3
XM_011527205.1:c.12681_12693del XP_011525507.1:p.Glu4228SerfsTer3
XM_006723317.2:c.12663_12675del XP_006723380.1:p.Glu4222SerfsTer3
XM_006723319.2:c.12648_12660del XP_006723382.1:p.Glu4217SerfsTer3
XM_011527205.2:c.12681_12693del XP_011525507.1:p.Glu4228SerfsTer3
NM_000540.3:c.12681_12693del MANE Select NP_000531.2:p.Glu4228SerfsTer3
NM_001042723.2:c.12666_12678del NP_001036188.1:p.Glu4223SerfsTer3