Canonical Allele Identifier: CA8418225

Gene: RAI1

Linked Data

• dbSNP Id: rs587780430
• ExAC: 17:17697134 A / AGCAGC
• gnomAD v2: 17-17697134-A-AGCAGC
• MyVariant Identifiers: chr17:g.17697134_17697135insGCAGC (hg19) ; chr17:g.17793820_17793821insGCAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793820_17793821insGCAGC , CM000679.2:g.17793820_17793821insGCAGC	GRCh38
NC_000017.10:g.17697134_17697135insGCAGC , CM000679.1:g.17697134_17697135insGCAGC	GRCh37
NC_000017.9:g.17637859_17637860insGCAGC	NCBI36
NG_007101.2:g.117348_117349insGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.872_873insGCAGC MANE Select	ENSP00000323074.4:p.Ala292GlnfsTer?
ENST00000640861.1:c.806_807insGCAGC	ENSP00000491773.1:p.Ala270GlnfsTer?
ENST00000353383.5:c.872_873insGCAGC	ENSP00000323074.4:p.Ala292GlnfsTer?
ENST00000395774.1:c.872_873insGCAGC	ENSP00000379120.1:p.Ala292GlnfsTer?
NM_030665.3:c.872_873insGCAGC	NP_109590.3:p.Ala292GlnfsTer?
XM_017024025.1:c.872_873insGCAGC	XP_016879514.1:p.Ala292GlnfsTer?
XM_017024026.1:c.872_873insGCAGC	XP_016879515.1:p.Ala292GlnfsTer?
XM_017024027.1:c.872_873insGCAGC	XP_016879516.1:p.Ala292GlnfsTer?
XM_017024028.2:c.872_873insGCAGC	XP_016879517.1:p.Ala292GlnfsTer?
NM_030665.4:c.872_873insGCAGC MANE Select	NP_109590.3:p.Ala292GlnfsTer?