Canonical Allele Identifier: CA288367202

Gene: RAI1

Linked Data

• dbSNP Id: rs34551516

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793648del , CM000679.2:g.17793648del	GRCh38
NC_000017.10:g.17696962del , CM000679.1:g.17696962del	GRCh37
NC_000017.9:g.17637687del	NCBI36
NG_007101.2:g.117176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.700del MANE Select	ENSP00000323074.4:p.His234ThrfsTer18
ENST00000640861.1:c.634del
ENST00000353383.5:c.700del	ENSP00000323074.4:p.His234ThrfsTer18
ENST00000395774.1:c.700del	ENSP00000379120.1:p.His234ThrfsTer18
NM_030665.3:c.700del	NP_109590.3:p.His234ThrfsTer18
XM_017024025.1:c.700del	XP_016879514.1:p.His234ThrfsTer18
XM_017024026.1:c.700del	XP_016879515.1:p.His234ThrfsTer18
XM_017024027.1:c.700del	XP_016879516.1:p.His234ThrfsTer18
XM_017024028.2:c.700del	XP_016879517.1:p.His234ThrfsTer18
NM_030665.4:c.700del MANE Select	NP_109590.3:p.His234ThrfsTer18