Canonical Allele Identifier: CA2576771077
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499702_38499714del , CM000681.2:g.38499702_38499714del GRCh38
NC_000019.9:g.38990342_38990354del , CM000681.1:g.38990342_38990354del GRCh37
NC_000019.8:g.43682182_43682194del NCBI36
NG_008866.1:g.71003_71015del , LRG_766:g.71003_71015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7095_7107del ENSP00000471601.2:p.Pro2366ValfsTer?
ENST00000359596.8:c.7095_7107del MANE Select ENSP00000352608.2:p.Pro2366ValfsTer?
ENST00000355481.8:c.7095_7107del ENSP00000347667.3:p.Pro2366ValfsTer?
ENST00000359596.7:c.7095_7107del ENSP00000352608.2:p.Pro2366ValfsTer?
ENST00000360985.7:c.7092_7104del ENSP00000354254.4:p.Pro2365ValfsTer?
ENST00000594335.5:c.547_559del
NM_000540.2:c.7095_7107del , LRG_766t1:c.7095_7107del NP_000531.2:p.Pro2366ValfsTer?
NM_001042723.1:c.7095_7107del NP_001036188.1:p.Pro2366ValfsTer?
XM_006723317.1:c.7095_7107del XP_006723380.1:p.Pro2366ValfsTer?
XM_006723319.1:c.7095_7107del XP_006723382.1:p.Pro2366ValfsTer?
XM_011527204.1:c.7092_7104del XP_011525506.1:p.Pro2365ValfsTer?
XM_011527205.1:c.7095_7107del XP_011525507.1:p.Pro2366ValfsTer?
XM_006723317.2:c.7095_7107del XP_006723380.1:p.Pro2366ValfsTer?
XM_006723319.2:c.7095_7107del XP_006723382.1:p.Pro2366ValfsTer?
XM_011527205.2:c.7095_7107del XP_011525507.1:p.Pro2366ValfsTer?
XR_001753735.1:n.7178_7190del
NM_000540.3:c.7095_7107del MANE Select NP_000531.2:p.Pro2366ValfsTer?
NM_001042723.2:c.7095_7107del NP_001036188.1:p.Pro2366ValfsTer?