Canonical Allele Identifier: CA2636388235

Gene: RAI1

Linked Data

• gnomAD v4: 17-17793795-C-CAGCAGCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793803_17793804insAAGCAGCAG , CM000679.2:g.17793803_17793804insAAGCAGCAG	GRCh38
NC_000017.10:g.17697117_17697118insAAGCAGCAG , CM000679.1:g.17697117_17697118insAAGCAGCAG	GRCh37
NC_000017.9:g.17637842_17637843insAAGCAGCAG	NCBI36
NG_007101.2:g.117331_117332insAAGCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.855_856insAAGCAGCAG MANE Select	ENSP00000323074.4:p.Gln285_Gln286insLysGlnGln
ENST00000640861.1:c.789_790insAAGCAGCAG	ENSP00000491773.1:p.Gln263_Gln264insLysGlnGln
ENST00000353383.5:c.855_856insAAGCAGCAG	ENSP00000323074.4:p.Gln285_Gln286insLysGlnGln
ENST00000395774.1:c.855_856insAAGCAGCAG	ENSP00000379120.1:p.Gln285_Gln286insLysGlnGln
NM_030665.3:c.855_856insAAGCAGCAG	NP_109590.3:p.Gln285_Gln286insLysGlnGln
XM_017024025.1:c.855_856insAAGCAGCAG	XP_016879514.1:p.Gln285_Gln286insLysGlnGln
XM_017024026.1:c.855_856insAAGCAGCAG	XP_016879515.1:p.Gln285_Gln286insLysGlnGln
XM_017024027.1:c.855_856insAAGCAGCAG	XP_016879516.1:p.Gln285_Gln286insLysGlnGln
XM_017024028.2:c.855_856insAAGCAGCAG	XP_016879517.1:p.Gln285_Gln286insLysGlnGln
NM_030665.4:c.855_856insAAGCAGCAG MANE Select	NP_109590.3:p.Gln285_Gln286insLysGlnGln