Canonical Allele Identifier: CA8418211

Gene: RAI1

Linked Data

• ClinVar Variation Id: 403362
• ClinVar RCV Id: RCV000455895 ; RCV001573239 ; RCV002311765 ; RCV002480335
• dbSNP Id: rs775735568
• ExAC: 17:17697101 AGCAG / A
• gnomAD v2: 17-17697101-AGCAG-A
• gnomAD v3: 17-17793787-AGCAG-A
• gnomAD v4: 17-17793787-AGCAG-A
• MyVariant Identifiers: chr17:g.17697102_17697105del (hg19) ; chr17:g.17697102_17697111delinsCAGCAG (hg19) ; chr17:g.17697102_17697114delinsCAGCAGCAG (hg19) ; chr17:g.17697102_17697117delinsCAGCAGCAGCAG (hg19) ; chr17:g.17793788_17793791del (hg38) ; chr17:g.17793788_17793797delinsCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793788_17793791del , CM000679.2:g.17793788_17793791del	GRCh38
NC_000017.10:g.17697102_17697105del , CM000679.1:g.17697102_17697105del	GRCh37
NC_000017.9:g.17637827_17637830del	NCBI36
NG_007101.2:g.117316_117319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.840_843del MANE Select	ENSP00000323074.4:p.Gln280HisfsTer?
ENST00000640861.1:c.774_777del	ENSP00000491773.1:p.Gln258HisfsTer?
ENST00000353383.5:c.840_843del	ENSP00000323074.4:p.Gln280HisfsTer?
ENST00000395774.1:c.840_843del	ENSP00000379120.1:p.Gln280HisfsTer?
NM_030665.3:c.840_843del	NP_109590.3:p.Gln280HisfsTer?
XM_017024025.1:c.840_843del	XP_016879514.1:p.Gln280HisfsTer?
XM_017024026.1:c.840_843del	XP_016879515.1:p.Gln280HisfsTer?
XM_017024027.1:c.840_843del	XP_016879516.1:p.Gln280HisfsTer?
XM_017024028.2:c.840_843del	XP_016879517.1:p.Gln280HisfsTer?
NM_030665.4:c.840_843del MANE Select	NP_109590.3:p.Gln280HisfsTer?