Canonical Allele Identifier: CA2250667064

Gene: RAI1

Linked Data

• dbSNP Id: rs587780428
• gnomAD v4: 17-17793779-C-CCAGCAACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793784_17793785insACAGCAGCA , CM000679.2:g.17793784_17793785insACAGCAGCA	GRCh38
NC_000017.10:g.17697098_17697099insACAGCAGCA , CM000679.1:g.17697098_17697099insACAGCAGCA	GRCh37
NC_000017.9:g.17637823_17637824insACAGCAGCA	NCBI36
NG_007101.2:g.117312_117313insACAGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.836_837insACAGCAGCA MANE Select	ENSP00000323074.4:p.Gln279_Gln280insGlnGlnGln
ENST00000640861.1:c.770_771insACAGCAGCA	ENSP00000491773.1:p.Gln257_Gln258insGlnGlnGln
ENST00000353383.5:c.836_837insACAGCAGCA	ENSP00000323074.4:p.Gln279_Gln280insGlnGlnGln
ENST00000395774.1:c.836_837insACAGCAGCA	ENSP00000379120.1:p.Gln279_Gln280insGlnGlnGln
NM_030665.3:c.836_837insACAGCAGCA	NP_109590.3:p.Gln279_Gln280insGlnGlnGln
XM_017024025.1:c.836_837insACAGCAGCA	XP_016879514.1:p.Gln279_Gln280insGlnGlnGln
XM_017024026.1:c.836_837insACAGCAGCA	XP_016879515.1:p.Gln279_Gln280insGlnGlnGln
XM_017024027.1:c.836_837insACAGCAGCA	XP_016879516.1:p.Gln279_Gln280insGlnGlnGln
XM_017024028.2:c.836_837insACAGCAGCA	XP_016879517.1:p.Gln279_Gln280insGlnGlnGln
NM_030665.4:c.836_837insACAGCAGCA MANE Select	NP_109590.3:p.Gln279_Gln280insGlnGlnGln