Canonical Allele Identifier: CA2580092640

Gene: RAI1

Linked Data

• ClinVar Variation Id: 1701312
• ClinVar RCV Id: RCV002276042
• dbSNP Id: rs2143001748

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793785_17793789delinsAT , CM000679.2:g.17793785_17793789delinsAT	GRCh38
NC_000017.10:g.17697099_17697103delinsAT , CM000679.1:g.17697099_17697103delinsAT	GRCh37
NC_000017.9:g.17637824_17637828delinsAT	NCBI36
NG_007101.2:g.117313_117317delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.837_841delinsAT MANE Select	ENSP00000323074.4:p.Gln280Ter
ENST00000640861.1:c.771_775delinsAT	ENSP00000491773.1:p.Gln258Ter
ENST00000353383.5:c.837_841delinsAT	ENSP00000323074.4:p.Gln280Ter
ENST00000395774.1:c.837_841delinsAT	ENSP00000379120.1:p.Gln280Ter
NM_030665.3:c.837_841delinsAT	NP_109590.3:p.Gln280Ter
XM_017024025.1:c.837_841delinsAT	XP_016879514.1:p.Gln280Ter
XM_017024026.1:c.837_841delinsAT	XP_016879515.1:p.Gln280Ter
XM_017024027.1:c.837_841delinsAT	XP_016879516.1:p.Gln280Ter
XM_017024028.2:c.837_841delinsAT	XP_016879517.1:p.Gln280Ter
NM_030665.4:c.837_841delinsAT MANE Select	NP_109590.3:p.Gln280Ter