Canonical Allele Identifier: CA202432

Gene: RAI1

Linked Data

• ClinVar Variation Id: 130086
• ClinVar RCV Id: RCV000177356 ; RCV001575611 ; RCV002312242
• dbSNP Id: rs371983878
• ExAC: 17:17697093 C / CCAG
• gnomAD v2: 17-17697093-C-CCAG
• gnomAD v3: 17-17793779-C-CCAG
• gnomAD v4: 17-17793779-C-CCAG
• MyVariant Identifiers: chr17:g.17697132_17697134dupGCA (hg19) ; chr17:g.17697134_17697135insGCA (hg19) ; chr17:g.17697132_17697133insCAG (hg19) ; chr17:g.17697114_17697115insCAG (hg19) ; chr17:g.17697108_17697109insCAG (hg19) ; chr17:g.17697105_17697106insCAG (hg19) ; chr17:g.17697096_17697097insCAG (hg19) ; chr17:g.17697093_17697094insCAG (hg19) ; chr17:g.17793818_17793820dupGCA (hg38) ; chr17:g.17793820_17793821insGCA (hg38) ; chr17:g.17793791_17793792insCAG (hg38) ; chr17:g.17793782_17793783insCAG (hg38) ; chr17:g.17793779_17793780insCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793818_17793820dup , CM000679.2:g.17793818_17793820dup	GRCh38
NC_000017.10:g.17697132_17697134dup , CM000679.1:g.17697132_17697134dup	GRCh37
NC_000017.9:g.17637857_17637859dup	NCBI36
NG_007101.2:g.117346_117348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.870_872dup MANE Select	ENSP00000323074.4:p.Gln291_Ala292insGln
ENST00000640861.1:c.804_806dup	ENSP00000491773.1:p.Gln269_Ala270insGln
ENST00000353383.5:c.870_872dup	ENSP00000323074.4:p.Gln291_Ala292insGln
ENST00000395774.1:c.870_872dup	ENSP00000379120.1:p.Gln291_Ala292insGln
NM_030665.3:c.870_872dup	NP_109590.3:p.Gln291_Ala292insGln
XM_017024025.1:c.870_872dup	XP_016879514.1:p.Gln291_Ala292insGln
XM_017024026.1:c.870_872dup	XP_016879515.1:p.Gln291_Ala292insGln
XM_017024027.1:c.870_872dup	XP_016879516.1:p.Gln291_Ala292insGln
XM_017024028.2:c.870_872dup	XP_016879517.1:p.Gln291_Ala292insGln
NM_030665.4:c.870_872dup MANE Select	NP_109590.3:p.Gln291_Ala292insGln