Canonical Allele Identifier: CA891844156

Gene: RAI1

Linked Data

• ClinVar Variation Id: 587811
• ClinVar RCV Id: RCV002312301
• dbSNP Id: rs1567916090

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793809_17793830delinsAGCCCTTCAA , CM000679.2:g.17793809_17793830delinsAGCCCTTCAA	GRCh38
NC_000017.10:g.17697123_17697144delinsAGCCCTTCAA , CM000679.1:g.17697123_17697144delinsAGCCCTTCAA	GRCh37
NC_000017.9:g.17637848_17637869delinsAGCCCTTCAA	NCBI36
NG_007101.2:g.117337_117358delinsAGCCCTTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.861_882delinsAGCCCTTCAA MANE Select	ENSP00000323074.4:p.Gln288_Gln291del
ENST00000640861.1:c.795_816delinsAGCCCTTCAA	ENSP00000491773.1:p.Gln266_Gln269del
ENST00000353383.5:c.861_882delinsAGCCCTTCAA	ENSP00000323074.4:p.Gln288_Gln291del
ENST00000395774.1:c.861_882delinsAGCCCTTCAA	ENSP00000379120.1:p.Gln288_Gln291del
NM_030665.3:c.861_882delinsAGCCCTTCAA	NP_109590.3:p.Gln288_Gln291del
XM_017024025.1:c.861_882delinsAGCCCTTCAA	XP_016879514.1:p.Gln288_Gln291del
XM_017024026.1:c.861_882delinsAGCCCTTCAA	XP_016879515.1:p.Gln288_Gln291del
XM_017024027.1:c.861_882delinsAGCCCTTCAA	XP_016879516.1:p.Gln288_Gln291del
XM_017024028.2:c.861_882delinsAGCCCTTCAA	XP_016879517.1:p.Gln288_Gln291del
NM_030665.4:c.861_882delinsAGCCCTTCAA MANE Select	NP_109590.3:p.Gln288_Gln291del