Canonical Allele Identifier: CA2584900090
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38499955-C-CGAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499955_38499956insGAT , CM000681.2:g.38499955_38499956insGAT GRCh38
NC_000019.9:g.38990595_38990596insGAT , CM000681.1:g.38990595_38990596insGAT GRCh37
NC_000019.8:g.43682435_43682436insGAT NCBI36
NG_008866.1:g.71256_71257insGAT , LRG_766:g.71256_71257insGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7262_7263insGAT ENSP00000471601.2:p.Ala2421_Ile2422insIle
ENST00000359596.8:c.7262_7263insGAT MANE Select ENSP00000352608.2:p.Ala2421_Ile2422insIle
ENST00000355481.8:c.7262_7263insGAT ENSP00000347667.3:p.Ala2421_Ile2422insIle
ENST00000359596.7:c.7262_7263insGAT ENSP00000352608.2:p.Ala2421_Ile2422insIle
ENST00000360985.7:c.7259_7260insGAT ENSP00000354254.4:p.Ala2420_Ile2421insIle
ENST00000594335.5:c.714_715insGAT
NM_000540.2:c.7262_7263insGAT , LRG_766t1:c.7262_7263insGAT NP_000531.2:p.Ala2421_Ile2422insIle
NM_001042723.1:c.7262_7263insGAT NP_001036188.1:p.Ala2421_Ile2422insIle
XM_006723317.1:c.7262_7263insGAT XP_006723380.1:p.Ala2421_Ile2422insIle
XM_006723319.1:c.7262_7263insGAT XP_006723382.1:p.Ala2421_Ile2422insIle
XM_011527204.1:c.7259_7260insGAT XP_011525506.1:p.Ala2420_Ile2421insIle
XM_011527205.1:c.7262_7263insGAT XP_011525507.1:p.Ala2421_Ile2422insIle
XM_006723317.2:c.7262_7263insGAT XP_006723380.1:p.Ala2421_Ile2422insIle
XM_006723319.2:c.7262_7263insGAT XP_006723382.1:p.Ala2421_Ile2422insIle
XM_011527205.2:c.7262_7263insGAT XP_011525507.1:p.Ala2421_Ile2422insIle
XR_001753735.1:n.7345_7346insGAT
NM_000540.3:c.7262_7263insGAT MANE Select NP_000531.2:p.Ala2421_Ile2422insIle
NM_001042723.2:c.7262_7263insGAT NP_001036188.1:p.Ala2421_Ile2422insIle
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