Canonical Allele Identifier: CA8418210
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 587783
ClinVar RCV Id: RCV000989763 RCV001528261 RCV001572982 RCV002312283
dbSNP Id: rs34083643
ExAC: 17:17697101 AG / A
gnomAD v2: 17-17697101-AG-A
gnomAD v3: 17-17793787-AG-A
gnomAD v4: 17-17793787-AG-A
COSMIC: COSM146277 COSM4422927
MyVariant Identifiers: chr17:g.17697102del (hg19) chr17:g.17697102_17697111delinsCAGCAGCAG (hg19) chr17:g.17697102_17697114delinsCAGCAGCAGCAG (hg19) chr17:g.17697102_17697117delinsCAGCAGCAGCAGCAG (hg19) chr17:g.17793788del (hg38) chr17:g.17793788_17793797delinsCAGCAGCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793788del , CM000679.2:g.17793788del GRCh38
NC_000017.10:g.17697102del , CM000679.1:g.17697102del GRCh37
NC_000017.9:g.17637827del NCBI36
NG_007101.2:g.117316del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.840del MANE Select ENSP00000323074.4:p.Gln280HisfsTer?
ENST00000640861.1:c.774del ENSP00000491773.1:p.Gln258HisfsTer?
ENST00000353383.5:c.840del ENSP00000323074.4:p.Gln280HisfsTer?
ENST00000395774.1:c.840del ENSP00000379120.1:p.Gln280HisfsTer?
NM_030665.3:c.840del NP_109590.3:p.Gln280HisfsTer?
XM_017024025.1:c.840del XP_016879514.1:p.Gln280HisfsTer?
XM_017024026.1:c.840del XP_016879515.1:p.Gln280HisfsTer?
XM_017024027.1:c.840del XP_016879516.1:p.Gln280HisfsTer?
XM_017024028.2:c.840del XP_016879517.1:p.Gln280HisfsTer?
NM_030665.4:c.840del MANE Select NP_109590.3:p.Gln280HisfsTer?
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Search 100 bp 3'