Canonical Allele Identifier: CA2636388232

Gene: RAI1

Linked Data

• gnomAD v4: 17-17793788-G-GCAGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793793_17793794insACAGCA , CM000679.2:g.17793793_17793794insACAGCA	GRCh38
NC_000017.10:g.17697107_17697108insACAGCA , CM000679.1:g.17697107_17697108insACAGCA	GRCh37
NC_000017.9:g.17637832_17637833insACAGCA	NCBI36
NG_007101.2:g.117321_117322insACAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.845_846insACAGCA MANE Select	ENSP00000323074.4:p.Gln282_Gln283insGlnGln
ENST00000640861.1:c.779_780insACAGCA	ENSP00000491773.1:p.Gln260_Gln261insGlnGln
ENST00000353383.5:c.845_846insACAGCA	ENSP00000323074.4:p.Gln282_Gln283insGlnGln
ENST00000395774.1:c.845_846insACAGCA	ENSP00000379120.1:p.Gln282_Gln283insGlnGln
NM_030665.3:c.845_846insACAGCA	NP_109590.3:p.Gln282_Gln283insGlnGln
XM_017024025.1:c.845_846insACAGCA	XP_016879514.1:p.Gln282_Gln283insGlnGln
XM_017024026.1:c.845_846insACAGCA	XP_016879515.1:p.Gln282_Gln283insGlnGln
XM_017024027.1:c.845_846insACAGCA	XP_016879516.1:p.Gln282_Gln283insGlnGln
XM_017024028.2:c.845_846insACAGCA	XP_016879517.1:p.Gln282_Gln283insGlnGln
NM_030665.4:c.845_846insACAGCA MANE Select	NP_109590.3:p.Gln282_Gln283insGlnGln