Canonical Allele Identifier: CA498423000
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 588823
ClinVar RCV Id: RCV001559012 RCV002315319 RCV003983176
dbSNP Id: rs371983878
gnomAD v3: 17-17793779-CCAGCAGCAGCAGCAG-C
gnomAD v4: 17-17793779-CCAGCAGCAGCAGCAG-C
MyVariant Identifiers: chr17:g.17697120_17697134del (hg19) chr17:g.17697094_17697108del (hg19) chr17:g.17793806_17793820del (hg38) chr17:g.17793780_17793794del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793806_17793820del , CM000679.2:g.17793806_17793820del GRCh38
NC_000017.10:g.17697120_17697134del , CM000679.1:g.17697120_17697134del GRCh37
NC_000017.9:g.17637845_17637859del NCBI36
NG_007101.2:g.117334_117348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.858_872del MANE Select ENSP00000323074.4:p.Gln287_Gln291del
ENST00000640861.1:c.792_806del ENSP00000491773.1:p.Gln265_Gln269del
ENST00000353383.5:c.858_872del ENSP00000323074.4:p.Gln287_Gln291del
ENST00000395774.1:c.858_872del ENSP00000379120.1:p.Gln287_Gln291del
NM_030665.3:c.858_872del NP_109590.3:p.Gln287_Gln291del
XM_017024025.1:c.858_872del XP_016879514.1:p.Gln287_Gln291del
XM_017024026.1:c.858_872del XP_016879515.1:p.Gln287_Gln291del
XM_017024027.1:c.858_872del XP_016879516.1:p.Gln287_Gln291del
XM_017024028.2:c.858_872del XP_016879517.1:p.Gln287_Gln291del
NM_030665.4:c.858_872del MANE Select NP_109590.3:p.Gln287_Gln291del
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