Canonical Allele Identifier: CA8418208

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1593726
• ClinVar RCV Id: RCV002105169 ; RCV003903360
• dbSNP Id: rs571229335
• ExAC: 17:17697096 G / GCAA
• gnomAD v2: 17-17697096-G-GCAA
• gnomAD v3: 17-17793782-G-GCAA
• gnomAD v4: 17-17793782-G-GCAA
• MyVariant Identifiers: chr17:g.17697098_17697099insACA (hg19) ; chr17:g.17697096_17697097insCAA (hg19) ; chr17:g.17793782_17793783insCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793784_17793785insACA , CM000679.2:g.17793784_17793785insACA	GRCh38
NC_000017.10:g.17697098_17697099insACA , CM000679.1:g.17697098_17697099insACA	GRCh37
NC_000017.9:g.17637823_17637824insACA	NCBI36
NG_007101.2:g.117312_117313insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.836_837insACA MANE Select	ENSP00000323074.4:p.Gln279_Gln280insGln
ENST00000640861.1:c.770_771insACA	ENSP00000491773.1:p.Gln257_Gln258insGln
ENST00000353383.5:c.836_837insACA	ENSP00000323074.4:p.Gln279_Gln280insGln
ENST00000395774.1:c.836_837insACA	ENSP00000379120.1:p.Gln279_Gln280insGln
NM_030665.3:c.836_837insACA	NP_109590.3:p.Gln279_Gln280insGln
XM_017024025.1:c.836_837insACA	XP_016879514.1:p.Gln279_Gln280insGln
XM_017024026.1:c.836_837insACA	XP_016879515.1:p.Gln279_Gln280insGln
XM_017024027.1:c.836_837insACA	XP_016879516.1:p.Gln279_Gln280insGln
XM_017024028.2:c.836_837insACA	XP_016879517.1:p.Gln279_Gln280insGln
NM_030665.4:c.836_837insACA MANE Select	NP_109590.3:p.Gln279_Gln280insGln