Canonical Allele Identifier: CA726623055

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1442236
• ClinVar RCV Id: RCV001969814 ; RCV003395308
• dbSNP Id: rs371983878
• gnomAD v3: 17-17793779-C-CCAGCAGCAGCAGCAGCAGCAG
• gnomAD v4: 17-17793779-C-CCAGCAGCAGCAGCAGCAGCAG
• MyVariant Identifiers: chr17:g.17697132_17697133insCAGCAGCAGCAGCAGCAGCAG (hg19) ; chr17:g.17793779_17793780insCAGCAGCAGCAGCAGCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793800_17793820dup , CM000679.2:g.17793800_17793820dup	GRCh38
NC_000017.10:g.17697114_17697134dup , CM000679.1:g.17697114_17697134dup	GRCh37
NC_000017.9:g.17637839_17637859dup	NCBI36
NG_007101.2:g.117328_117348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.852_872dup MANE Select	ENSP00000323074.4:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
ENST00000640861.1:c.786_806dup	ENSP00000491773.1:p.Gln269_Ala270insGlnGlnGlnGlnGlnGlnGln
ENST00000353383.5:c.852_872dup	ENSP00000323074.4:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
ENST00000395774.1:c.852_872dup	ENSP00000379120.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
NM_030665.3:c.852_872dup	NP_109590.3:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
XM_017024025.1:c.852_872dup	XP_016879514.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
XM_017024026.1:c.852_872dup	XP_016879515.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
XM_017024027.1:c.852_872dup	XP_016879516.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
XM_017024028.2:c.852_872dup	XP_016879517.1:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln
NM_030665.4:c.852_872dup MANE Select	NP_109590.3:p.Gln291_Ala292insGlnGlnGlnGlnGlnGlnGln