Canonical Allele Identifier: CA981957228

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1401096
• ClinVar RCV Id: RCV001911634
• dbSNP Id: rs371983878
• gnomAD v3: 17-17793779-C-CCAGCAGCAGCAGCAGCAGCAGCAG
• gnomAD v4: 17-17793779-C-CCAGCAGCAGCAGCAGCAGCAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793797_17793820dup , CM000679.2:g.17793797_17793820dup	GRCh38
NC_000017.10:g.17697111_17697134dup , CM000679.1:g.17697111_17697134dup	GRCh37
NC_000017.9:g.17637836_17637859dup	NCBI36
NG_007101.2:g.117325_117348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.849_872dup MANE Select	ENSP00000323074.4:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
ENST00000640861.1:c.783_806dup	ENSP00000491773.1:p.Gln269_Ala270insGlnGlnGlnGlnGlnGlnGlnGln
ENST00000353383.5:c.849_872dup	ENSP00000323074.4:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
ENST00000395774.1:c.849_872dup	ENSP00000379120.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
NM_030665.3:c.849_872dup	NP_109590.3:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
XM_017024025.1:c.849_872dup	XP_016879514.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
XM_017024026.1:c.849_872dup	XP_016879515.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
XM_017024027.1:c.849_872dup	XP_016879516.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
XM_017024028.2:c.849_872dup	XP_016879517.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln
NM_030665.4:c.849_872dup MANE Select	NP_109590.3:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGlnGln