Canonical Allele Identifier: CA180360

Gene: RAI1

Linked Data

• ClinVar Variation Id: 167555
• ClinVar RCV Id: RCV000153797 ; RCV001668309 ; RCV002312683
• dbSNP Id: rs35068024
• ExAC: 17:17697098 AGC / A
• gnomAD v2: 17-17697098-AGC-A
• gnomAD v3: 17-17793784-AGC-A
• gnomAD v4: 17-17793784-AGC-A
• COSMIC: COSM1479305 ; COSM4594482
• MyVariant Identifiers: chr17:g.17697099_17697100del (hg19) ; chr17:g.17697099_17697100delGC (hg19) ; chr17:g.17793785_17793786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793785_17793786del , CM000679.2:g.17793785_17793786del	GRCh38
NC_000017.10:g.17697099_17697100del , CM000679.1:g.17697099_17697100del	GRCh37
NC_000017.9:g.17637824_17637825del	NCBI36
NG_007101.2:g.117313_117314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.837_838del MANE Select	ENSP00000323074.4:p.Gln280AlafsTer?
ENST00000640861.1:c.771_772del	ENSP00000491773.1:p.Gln258AlafsTer?
ENST00000353383.5:c.837_838del	ENSP00000323074.4:p.Gln280AlafsTer?
ENST00000395774.1:c.837_838del	ENSP00000379120.1:p.Gln280AlafsTer?
NM_030665.3:c.837_838del	NP_109590.3:p.Gln280AlafsTer?
XM_017024025.1:c.837_838del	XP_016879514.1:p.Gln280AlafsTer?
XM_017024026.1:c.837_838del	XP_016879515.1:p.Gln280AlafsTer?
XM_017024027.1:c.837_838del	XP_016879516.1:p.Gln280AlafsTer?
XM_017024028.2:c.837_838del	XP_016879517.1:p.Gln280AlafsTer?
NM_030665.4:c.837_838del MANE Select	NP_109590.3:p.Gln280AlafsTer?