Canonical Allele Identifier: CA16620344
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423074
ClinVar RCV Id: RCV000480655
dbSNP Id: rs1064796209
MyVariant Identifiers: chr17:g.17701444del (hg19) chr17:g.17798130del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17798130del , CM000679.2:g.17798130del GRCh38
NC_000017.10:g.17701444del , CM000679.1:g.17701444del GRCh37
NC_000017.9:g.17642169del NCBI36
NG_007101.2:g.121658del

Transcript Alleles

HGVS Amino-acid change
ENST00000353383.6:c.5182del MANE Select ENSP00000323074.4:p.Thr1728ProfsTer?
ENST00000640861.1:c.4846del ENSP00000491773.1:p.Thr1616ProfsTer?
ENST00000353383.5:c.5182del ENSP00000323074.4:p.Thr1728ProfsTer?
NM_030665.3:c.5182del NP_109590.3:p.Thr1728ProfsTer?
XM_017024025.1:c.5182del XP_016879514.1:p.Thr1728ProfsTer?
XM_017024026.1:c.5182del XP_016879515.1:p.Thr1728ProfsTer?
XM_017024027.1:c.5182del XP_016879516.1:p.Thr1728ProfsTer?
XM_017024028.2:c.5182del XP_016879517.1:p.Thr1728ProfsTer?
NM_030665.4:c.5182del MANE Select NP_109590.3:p.Thr1728ProfsTer?
Search 100 bp 5'
Search 100 bp 3'