Canonical Allele Identifier: CA2739267246

Gene: RAI1

Linked Data

• ClinVar Variation Id: 2817824
• ClinVar RCV Id: RCV003711430

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793801_17793802insGGC , CM000679.2:g.17793801_17793802insGGC	GRCh38
NC_000017.10:g.17697115_17697116insGGC , CM000679.1:g.17697115_17697116insGGC	GRCh37
NC_000017.9:g.17637840_17637841insGGC	NCBI36
NG_007101.2:g.117329_117330insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.853_854insGGC MANE Select	ENSP00000323074.4:p.Gln284_Gln285insArg
ENST00000640861.1:c.787_788insGGC	ENSP00000491773.1:p.Gln262_Gln263insArg
ENST00000353383.5:c.853_854insGGC	ENSP00000323074.4:p.Gln284_Gln285insArg
ENST00000395774.1:c.853_854insGGC	ENSP00000379120.1:p.Gln284_Gln285insArg
NM_030665.3:c.853_854insGGC	NP_109590.3:p.Gln284_Gln285insArg
XM_017024025.1:c.853_854insGGC	XP_016879514.1:p.Gln284_Gln285insArg
XM_017024026.1:c.853_854insGGC	XP_016879515.1:p.Gln284_Gln285insArg
XM_017024027.1:c.853_854insGGC	XP_016879516.1:p.Gln284_Gln285insArg
XM_017024028.2:c.853_854insGGC	XP_016879517.1:p.Gln284_Gln285insArg
NM_030665.4:c.853_854insGGC MANE Select	NP_109590.3:p.Gln284_Gln285insArg