Canonical Allele Identifier: CA2697559439

Gene: RAI1

Linked Data

• ClinVar Variation Id: 2715431
• ClinVar RCV Id: RCV003553305

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793595del , CM000679.2:g.17793595del	GRCh38
NC_000017.10:g.17696909del , CM000679.1:g.17696909del	GRCh37
NC_000017.9:g.17637634del	NCBI36
NG_007101.2:g.117123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.647del MANE Select	ENSP00000323074.4:p.Phe216SerfsTer?
ENST00000640861.1:c.616+31del	ENSP00000491773.1:n.616+31del
ENST00000353383.5:c.647del	ENSP00000323074.4:p.Phe216SerfsTer?
ENST00000395774.1:c.647del	ENSP00000379120.1:p.Phe216SerfsTer?
NM_030665.3:c.647del	NP_109590.3:p.Phe216SerfsTer?
XM_017024025.1:c.647del	XP_016879514.1:p.Phe216SerfsTer?
XM_017024026.1:c.647del	XP_016879515.1:p.Phe216SerfsTer?
XM_017024027.1:c.647del	XP_016879516.1:p.Phe216SerfsTer?
XM_017024028.2:c.647del	XP_016879517.1:p.Phe216SerfsTer?
NM_030665.4:c.647del MANE Select	NP_109590.3:p.Phe216SerfsTer?