Canonical Allele Identifier: CA2576772274
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573332_38573336del , CM000681.2:g.38573332_38573336del GRCh38
NC_000019.9:g.39063972_39063976del , CM000681.1:g.39063972_39063976del GRCh37
NC_000019.8:g.43755812_43755816del NCBI36
NG_008866.1:g.144633_144637del , LRG_766:g.144633_144637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1065+25_1065+29del
ENST00000688602.1:c.2462+25_2462+29del
ENST00000689936.1:c.2434+25_2434+29del
ENST00000359596.8:c.14129+25_14129+29del MANE Select ENSP00000352608.2:n.14129+25_14129+29del
ENST00000355481.8:c.14114+25_14114+29del ENSP00000347667.3:n.14114+25_14114+29del
ENST00000359596.7:c.14129+25_14129+29del ENSP00000352608.2:n.14129+25_14129+29del
ENST00000360985.7:c.14111+25_14111+29del ENSP00000354254.4:n.14111+25_14111+29del
NM_000540.2:c.14129+25_14129+29del , LRG_766t1:c.14129+25_14129+29del NP_000531.2:n.14129+25_14129+29del
NM_001042723.1:c.14114+25_14114+29del NP_001036188.1:n.14114+25_14114+29del
XM_006723317.1:c.14111+25_14111+29del XP_006723380.1:n.14111+25_14111+29del
XM_006723319.1:c.14096+25_14096+29del XP_006723382.1:n.14096+25_14096+29del
XM_011527204.1:c.14126+25_14126+29del XP_011525506.1:n.14126+25_14126+29del
XM_011527205.1:c.14042+25_14042+29del XP_011525507.1:n.14042+25_14042+29del
XM_006723317.2:c.14111+25_14111+29del XP_006723380.1:n.14111+25_14111+29del
XM_006723319.2:c.14096+25_14096+29del XP_006723382.1:n.14096+25_14096+29del
XM_011527205.2:c.14042+25_14042+29del XP_011525507.1:n.14042+25_14042+29del
NM_000540.3:c.14129+25_14129+29del MANE Select NP_000531.2:n.14129+25_14129+29del
NM_001042723.2:c.14114+25_14114+29del NP_001036188.1:n.14114+25_14114+29del
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