Canonical Allele Identifier: CA625314489

Gene: RAI1

Linked Data

• dbSNP Id: rs1290578437
• gnomAD v2: 17-17697118-C-CATTAAG
• MyVariant Identifiers: chr17:g.17697118_17697119insATTAAG (hg19) ; chr17:g.17793804_17793805insATTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793805_17793806insTTAAGA , CM000679.2:g.17793805_17793806insTTAAGA	GRCh38
NC_000017.10:g.17697119_17697120insTTAAGA , CM000679.1:g.17697119_17697120insTTAAGA	GRCh37
NC_000017.9:g.17637844_17637845insTTAAGA	NCBI36
NG_007101.2:g.117333_117334insTTAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.857_858insTTAAGA MANE Select	ENSP00000323074.4:p.Gln286HisfsTer2
ENST00000640861.1:c.791_792insTTAAGA	ENSP00000491773.1:p.Gln264HisfsTer2
ENST00000353383.5:c.857_858insTTAAGA	ENSP00000323074.4:p.Gln286HisfsTer2
ENST00000395774.1:c.857_858insTTAAGA	ENSP00000379120.1:p.Gln286HisfsTer2
NM_030665.3:c.857_858insTTAAGA	NP_109590.3:p.Gln286HisfsTer2
XM_017024025.1:c.857_858insTTAAGA	XP_016879514.1:p.Gln286HisfsTer2
XM_017024026.1:c.857_858insTTAAGA	XP_016879515.1:p.Gln286HisfsTer2
XM_017024027.1:c.857_858insTTAAGA	XP_016879516.1:p.Gln286HisfsTer2
XM_017024028.2:c.857_858insTTAAGA	XP_016879517.1:p.Gln286HisfsTer2
NM_030665.4:c.857_858insTTAAGA MANE Select	NP_109590.3:p.Gln286HisfsTer2