Canonical Allele Identifier: CA2335052600
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499144_38499145delinsTG , CM000681.2:g.38499144_38499145delinsTG GRCh38
NC_000019.9:g.38989784_38989785delinsTG , CM000681.1:g.38989784_38989785delinsTG GRCh37
NC_000019.8:g.43681624_43681625delinsTG NCBI36
NG_008866.1:g.70445_70446delinsTG , LRG_766:g.70445_70446delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6928_6929delinsTG ENSP00000471601.2:p.Cys2310=
ENST00000359596.8:c.6928_6929delinsTG MANE Select ENSP00000352608.2:p.Cys2310=
ENST00000355481.8:c.6928_6929delinsTG ENSP00000347667.3:p.Cys2310=
ENST00000359596.7:c.6928_6929delinsTG ENSP00000352608.2:p.Cys2310=
ENST00000360985.7:c.6925_6926delinsTG ENSP00000354254.4:p.Cys2309=
ENST00000594335.5:c.380_381delinsTG
NM_000540.2:c.6928_6929delinsTG , LRG_766t1:c.6928_6929delinsTG NP_000531.2:p.Cys2310=
NM_001042723.1:c.6928_6929delinsTG NP_001036188.1:p.Cys2310=
XM_006723317.1:c.6928_6929delinsTG XP_006723380.1:p.Cys2310=
XM_006723319.1:c.6928_6929delinsTG XP_006723382.1:p.Cys2310=
XM_011527204.1:c.6925_6926delinsTG XP_011525506.1:p.Cys2309=
XM_011527205.1:c.6928_6929delinsTG XP_011525507.1:p.Cys2310=
XM_006723317.2:c.6928_6929delinsTG XP_006723380.1:p.Cys2310=
XM_006723319.2:c.6928_6929delinsTG XP_006723382.1:p.Cys2310=
XM_011527205.2:c.6928_6929delinsTG XP_011525507.1:p.Cys2310=
XR_001753735.1:n.7011_7012delinsTG
NM_000540.3:c.6928_6929delinsTG MANE Select NP_000531.2:p.Cys2310=
NM_001042723.2:c.6928_6929delinsTG NP_001036188.1:p.Cys2310=
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