Canonical Allele Identifier: CA726623008

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1508638
• ClinVar RCV Id: RCV002040471
• dbSNP Id: rs371983878
• gnomAD v4: 17-17793779-CCAGCAGCAGCAGCAGCAGCAGCAGCAG-C
• MyVariant Identifiers: chr17:g.17697094_17697120del (hg19) ; chr17:g.17793780_17793806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793794_17793820del , CM000679.2:g.17793794_17793820del	GRCh38
NC_000017.10:g.17697108_17697134del , CM000679.1:g.17697108_17697134del	GRCh37
NC_000017.9:g.17637833_17637859del	NCBI36
NG_007101.2:g.117322_117348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.846_872del MANE Select	ENSP00000323074.4:p.Gln283_Gln291del
ENST00000640861.1:c.780_806del	ENSP00000491773.1:p.Gln261_Gln269del
ENST00000353383.5:c.846_872del	ENSP00000323074.4:p.Gln283_Gln291del
ENST00000395774.1:c.846_872del	ENSP00000379120.1:p.Gln283_Gln291del
NM_030665.3:c.846_872del	NP_109590.3:p.Gln283_Gln291del
XM_017024025.1:c.846_872del	XP_016879514.1:p.Gln283_Gln291del
XM_017024026.1:c.846_872del	XP_016879515.1:p.Gln283_Gln291del
XM_017024027.1:c.846_872del	XP_016879516.1:p.Gln283_Gln291del
XM_017024028.2:c.846_872del	XP_016879517.1:p.Gln283_Gln291del
NM_030665.4:c.846_872del MANE Select	NP_109590.3:p.Gln283_Gln291del