Canonical Allele Identifier: CA2573054335

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1327891
• ClinVar RCV Id: RCV001794833
• dbSNP Id: rs2143001767

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793808_17793809del , CM000679.2:g.17793808_17793809del	GRCh38
NC_000017.10:g.17697122_17697123del , CM000679.1:g.17697122_17697123del	GRCh37
NC_000017.9:g.17637847_17637848del	NCBI36
NG_007101.2:g.117336_117337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.860_861del MANE Select	ENSP00000323074.4:p.Gln287ProfsTer?
ENST00000640861.1:c.794_795del	ENSP00000491773.1:p.Gln265ProfsTer?
ENST00000353383.5:c.860_861del	ENSP00000323074.4:p.Gln287ProfsTer?
ENST00000395774.1:c.860_861del	ENSP00000379120.1:p.Gln287ProfsTer?
NM_030665.3:c.860_861del	NP_109590.3:p.Gln287ProfsTer?
XM_017024025.1:c.860_861del	XP_016879514.1:p.Gln287ProfsTer?
XM_017024026.1:c.860_861del	XP_016879515.1:p.Gln287ProfsTer?
XM_017024027.1:c.860_861del	XP_016879516.1:p.Gln287ProfsTer?
XM_017024028.2:c.860_861del	XP_016879517.1:p.Gln287ProfsTer?
NM_030665.4:c.860_861del MANE Select	NP_109590.3:p.Gln287ProfsTer?