Canonical Allele Identifier: CA2573153183
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1354943
ClinVar RCV Id: RCV001887920
dbSNP Id: rs2143001661

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793609_17793617del , CM000679.2:g.17793609_17793617del GRCh38
NC_000017.10:g.17696923_17696931del , CM000679.1:g.17696923_17696931del GRCh37
NC_000017.9:g.17637648_17637656del NCBI36
NG_007101.2:g.117137_117145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.661_669del MANE Select ENSP00000323074.4:p.Thr221_Ser223del
ENST00000640861.1:c.617-21_617-13del ENSP00000491773.1:n.617-21_617-13del
ENST00000353383.5:c.661_669del ENSP00000323074.4:p.Thr221_Ser223del
ENST00000395774.1:c.661_669del ENSP00000379120.1:p.Thr221_Ser223del
NM_030665.3:c.661_669del NP_109590.3:p.Thr221_Ser223del
XM_017024025.1:c.661_669del XP_016879514.1:p.Thr221_Ser223del
XM_017024026.1:c.661_669del XP_016879515.1:p.Thr221_Ser223del
XM_017024027.1:c.661_669del XP_016879516.1:p.Thr221_Ser223del
XM_017024028.2:c.661_669del XP_016879517.1:p.Thr221_Ser223del
NM_030665.4:c.661_669del MANE Select NP_109590.3:p.Thr221_Ser223del