Canonical Allele Identifier: CA2499223928

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1190631
• ClinVar RCV Id: RCV001551420
• dbSNP Id: rs2143001749

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793785_17793797delinsA , CM000679.2:g.17793785_17793797delinsA	GRCh38
NC_000017.10:g.17697099_17697111delinsA , CM000679.1:g.17697099_17697111delinsA	GRCh37
NC_000017.9:g.17637824_17637836delinsA	NCBI36
NG_007101.2:g.117313_117325delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.837_849delinsA MANE Select	ENSP00000323074.4:p.Gln280_Gln283del
ENST00000640861.1:c.771_783delinsA	ENSP00000491773.1:p.Gln258_Gln261del
ENST00000353383.5:c.837_849delinsA	ENSP00000323074.4:p.Gln280_Gln283del
ENST00000395774.1:c.837_849delinsA	ENSP00000379120.1:p.Gln280_Gln283del
NM_030665.3:c.837_849delinsA	NP_109590.3:p.Gln280_Gln283del
XM_017024025.1:c.837_849delinsA	XP_016879514.1:p.Gln280_Gln283del
XM_017024026.1:c.837_849delinsA	XP_016879515.1:p.Gln280_Gln283del
XM_017024027.1:c.837_849delinsA	XP_016879516.1:p.Gln280_Gln283del
XM_017024028.2:c.837_849delinsA	XP_016879517.1:p.Gln280_Gln283del
NM_030665.4:c.837_849delinsA MANE Select	NP_109590.3:p.Gln280_Gln283del