Canonical Allele Identifier: CA223811
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96200
ClinVar RCV Id: RCV000082278 RCV002311727 RCV003974989
dbSNP Id: rs371983878
gnomAD v3: 17-17793779-CCAGCAGCAGCAGCAGCAGCAG-C
gnomAD v4: 17-17793779-CCAGCAGCAGCAGCAGCAGCAG-C
MyVariant Identifiers: chr17:g.17697114_17697134del (hg19) chr17:g.17697094_17697114del (hg19) chr17:g.17697114_17697134delGCAGCAGCAGCAGCAGCAGCA (hg19) chr17:g.17793800_17793820del (hg38) chr17:g.17793780_17793800del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793800_17793820del , CM000679.2:g.17793800_17793820del GRCh38
NC_000017.10:g.17697114_17697134del , CM000679.1:g.17697114_17697134del GRCh37
NC_000017.9:g.17637839_17637859del NCBI36
NG_007101.2:g.117328_117348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.852_872del MANE Select ENSP00000323074.4:p.Gln285_Gln291del
ENST00000640861.1:c.786_806del ENSP00000491773.1:p.Gln263_Gln269del
ENST00000353383.5:c.852_872del ENSP00000323074.4:p.Gln285_Gln291del
ENST00000395774.1:c.852_872del ENSP00000379120.1:p.Gln285_Gln291del
NM_030665.3:c.852_872del NP_109590.3:p.Gln285_Gln291del
XM_017024025.1:c.852_872del XP_016879514.1:p.Gln285_Gln291del
XM_017024026.1:c.852_872del XP_016879515.1:p.Gln285_Gln291del
XM_017024027.1:c.852_872del XP_016879516.1:p.Gln285_Gln291del
XM_017024028.2:c.852_872del XP_016879517.1:p.Gln285_Gln291del
NM_030665.4:c.852_872del MANE Select NP_109590.3:p.Gln285_Gln291del
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