Canonical Allele Identifier: CA625314485

Gene: RAI1

Linked Data

• dbSNP Id: rs1567915834
• gnomAD v2: 17-17697097-C-CAGG
• gnomAD v4: 17-17793783-C-CAGG
• MyVariant Identifiers: chr17:g.17697097_17697098insAGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793785_17793786insGAG , CM000679.2:g.17793785_17793786insGAG	GRCh38
NC_000017.10:g.17697099_17697100insGAG , CM000679.1:g.17697099_17697100insGAG	GRCh37
NC_000017.9:g.17637824_17637825insGAG	NCBI36
NG_007101.2:g.117313_117314insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.837_838insGAG MANE Select	ENSP00000323074.4:p.Gln279_Gln280insGlu
ENST00000640861.1:c.771_772insGAG	ENSP00000491773.1:p.Gln257_Gln258insGlu
ENST00000353383.5:c.837_838insGAG	ENSP00000323074.4:p.Gln279_Gln280insGlu
ENST00000395774.1:c.837_838insGAG	ENSP00000379120.1:p.Gln279_Gln280insGlu
NM_030665.3:c.837_838insGAG	NP_109590.3:p.Gln279_Gln280insGlu
XM_017024025.1:c.837_838insGAG	XP_016879514.1:p.Gln279_Gln280insGlu
XM_017024026.1:c.837_838insGAG	XP_016879515.1:p.Gln279_Gln280insGlu
XM_017024027.1:c.837_838insGAG	XP_016879516.1:p.Gln279_Gln280insGlu
XM_017024028.2:c.837_838insGAG	XP_016879517.1:p.Gln279_Gln280insGlu
NM_030665.4:c.837_838insGAG MANE Select	NP_109590.3:p.Gln279_Gln280insGlu