Canonical Allele Identifier: CA231440

Gene: RAI1

Linked Data

• ClinVar Variation Id: 130085
• ClinVar RCV Id: RCV000118112
• dbSNP Id: rs587780429
• MyVariant Identifiers: chr17:g.17697098_17697099del (hg19) ; chr17:g.17793784_17793785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17793784_17793785del , CM000679.2:g.17793784_17793785del	GRCh38
NC_000017.10:g.17697098_17697099del , CM000679.1:g.17697098_17697099del	GRCh37
NC_000017.9:g.17637823_17637824del	NCBI36
NG_007101.2:g.117312_117313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353383.6:c.836_837del MANE Select	ENSP00000323074.4:p.Gln279ProfsTer?
ENST00000640861.1:c.770_771del	ENSP00000491773.1:p.Gln257ProfsTer?
ENST00000353383.5:c.836_837del	ENSP00000323074.4:p.Gln279ProfsTer?
ENST00000395774.1:c.836_837del	ENSP00000379120.1:p.Gln279ProfsTer?
NM_030665.3:c.836_837del	NP_109590.3:p.Gln279ProfsTer?
XM_017024025.1:c.836_837del	XP_016879514.1:p.Gln279ProfsTer?
XM_017024026.1:c.836_837del	XP_016879515.1:p.Gln279ProfsTer?
XM_017024027.1:c.836_837del	XP_016879516.1:p.Gln279ProfsTer?
XM_017024028.2:c.836_837del	XP_016879517.1:p.Gln279ProfsTer?
NM_030665.4:c.836_837del MANE Select	NP_109590.3:p.Gln279ProfsTer?