Canonical Allele Identifier: CA2580092641

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1802191
• ClinVar RCV Id: RCV002465004

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793796_17793799del , CM000679.2:g.17793796_17793799del	GRCh38
NC_000017.10:g.17697110_17697113del , CM000679.1:g.17697110_17697113del	GRCh37
NC_000017.9:g.17637835_17637838del	NCBI36
NG_007101.2:g.117324_117327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.848_851del MANE Select	ENSP00000323074.4:p.Gln283ArgfsTer?
ENST00000640861.1:c.782_785del	ENSP00000491773.1:p.Gln261ArgfsTer?
ENST00000353383.5:c.848_851del	ENSP00000323074.4:p.Gln283ArgfsTer?
ENST00000395774.1:c.848_851del	ENSP00000379120.1:p.Gln283ArgfsTer?
NM_030665.3:c.848_851del	NP_109590.3:p.Gln283ArgfsTer?
XM_017024025.1:c.848_851del	XP_016879514.1:p.Gln283ArgfsTer?
XM_017024026.1:c.848_851del	XP_016879515.1:p.Gln283ArgfsTer?
XM_017024027.1:c.848_851del	XP_016879516.1:p.Gln283ArgfsTer?
XM_017024028.2:c.848_851del	XP_016879517.1:p.Gln283ArgfsTer?
NM_030665.4:c.848_851del MANE Select	NP_109590.3:p.Gln283ArgfsTer?