Canonical Allele Identifier: CA8418212
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174857
ClinVar RCV Id: RCV001529069 RCV002449357 RCV003980650
dbSNP Id: rs760854027
ExAC: 17:17697101 AGCAGCAGCAG / A
gnomAD v2: 17-17697101-AGCAGCAGCAG-A
gnomAD v3: 17-17793787-AGCAGCAGCAG-A
gnomAD v4: 17-17793787-AGCAGCAGCAG-A
MyVariant Identifiers: chr17:g.17697102_17697111del (hg19) chr17:g.17697102_17697114delinsCAG (hg19) chr17:g.17697102_17697117delinsCAGCAG (hg19) chr17:g.17793788_17793797del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793788_17793797del , CM000679.2:g.17793788_17793797del GRCh38
NC_000017.10:g.17697102_17697111del , CM000679.1:g.17697102_17697111del GRCh37
NC_000017.9:g.17637827_17637836del NCBI36
NG_007101.2:g.117316_117325del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.840_849del MANE Select ENSP00000323074.4:p.Gln280HisfsTer?
ENST00000640861.1:c.774_783del ENSP00000491773.1:p.Gln258HisfsTer?
ENST00000353383.5:c.840_849del ENSP00000323074.4:p.Gln280HisfsTer?
ENST00000395774.1:c.840_849del ENSP00000379120.1:p.Gln280HisfsTer?
NM_030665.3:c.840_849del NP_109590.3:p.Gln280HisfsTer?
XM_017024025.1:c.840_849del XP_016879514.1:p.Gln280HisfsTer?
XM_017024026.1:c.840_849del XP_016879515.1:p.Gln280HisfsTer?
XM_017024027.1:c.840_849del XP_016879516.1:p.Gln280HisfsTer?
XM_017024028.2:c.840_849del XP_016879517.1:p.Gln280HisfsTer?
NM_030665.4:c.840_849del MANE Select NP_109590.3:p.Gln280HisfsTer?
Search 100 bp 5'
Search 100 bp 3'