Canonical Allele Identifier: CA202438
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196558
dbSNP Id: rs371983878

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793812_17793820del , CM000679.2:g.17793812_17793820del GRCh38
NC_000017.10:g.17697126_17697134del , CM000679.1:g.17697126_17697134del GRCh37
NC_000017.9:g.17637851_17637859del NCBI36
NG_007101.2:g.117340_117348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.864_872del MANE Select ENSP00000323074.4:p.Gln289_Gln291del
ENST00000640861.1:c.798_806del ENSP00000491773.1:p.Gln267_Gln269del
ENST00000353383.5:c.864_872del ENSP00000323074.4:p.Gln289_Gln291del
ENST00000395774.1:c.864_872del ENSP00000379120.1:p.Gln289_Gln291del
NM_030665.3:c.864_872del NP_109590.3:p.Gln289_Gln291del
XM_017024025.1:c.864_872del XP_016879514.1:p.Gln289_Gln291del
XM_017024026.1:c.864_872del XP_016879515.1:p.Gln289_Gln291del
XM_017024027.1:c.864_872del XP_016879516.1:p.Gln289_Gln291del
XM_017024028.2:c.864_872del XP_016879517.1:p.Gln289_Gln291del
NM_030665.4:c.864_872del MANE Select NP_109590.3:p.Gln289_Gln291del