Canonical Allele Identifier: CA891844155

Gene: RAI1

Linked Data

• ClinVar Variation Id: 588512
• ClinVar RCV Id: RCV002314600
• dbSNP Id: rs1567915962
• gnomAD v4: 17-17793788-G-GCAGCAGCAGCAA
• MyVariant Identifiers: chr17:g.17697113_17697114insACAGCAGCAGCA (hg19) ; chr17:g.17793799_17793800insACAGCAGCAGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793799_17793800insACAGCAGCAGCA , CM000679.2:g.17793799_17793800insACAGCAGCAGCA	GRCh38
NC_000017.10:g.17697113_17697114insACAGCAGCAGCA , CM000679.1:g.17697113_17697114insACAGCAGCAGCA	GRCh37
NC_000017.9:g.17637838_17637839insACAGCAGCAGCA	NCBI36
NG_007101.2:g.117327_117328insACAGCAGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.851_852insACAGCAGCAGCA MANE Select	ENSP00000323074.4:p.Gln284_Gln285insGlnGlnGlnGln
ENST00000640861.1:c.785_786insACAGCAGCAGCA	ENSP00000491773.1:p.Gln262_Gln263insGlnGlnGlnGln
ENST00000353383.5:c.851_852insACAGCAGCAGCA	ENSP00000323074.4:p.Gln284_Gln285insGlnGlnGlnGln
ENST00000395774.1:c.851_852insACAGCAGCAGCA	ENSP00000379120.1:p.Gln284_Gln285insGlnGlnGlnGln
NM_030665.3:c.851_852insACAGCAGCAGCA	NP_109590.3:p.Gln284_Gln285insGlnGlnGlnGln
XM_017024025.1:c.851_852insACAGCAGCAGCA	XP_016879514.1:p.Gln284_Gln285insGlnGlnGlnGln
XM_017024026.1:c.851_852insACAGCAGCAGCA	XP_016879515.1:p.Gln284_Gln285insGlnGlnGlnGln
XM_017024027.1:c.851_852insACAGCAGCAGCA	XP_016879516.1:p.Gln284_Gln285insGlnGlnGlnGln
XM_017024028.2:c.851_852insACAGCAGCAGCA	XP_016879517.1:p.Gln284_Gln285insGlnGlnGlnGln
NM_030665.4:c.851_852insACAGCAGCAGCA MANE Select	NP_109590.3:p.Gln284_Gln285insGlnGlnGlnGln