Canonical Allele Identifier: CA915949614
Gene: RAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 808239
ClinVar RCV Id: RCV000996504
dbSNP Id: rs778508332

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793620_17793622dup , CM000679.2:g.17793620_17793622dup GRCh38
NC_000017.10:g.17696934_17696936dup , CM000679.1:g.17696934_17696936dup GRCh37
NC_000017.9:g.17637659_17637661dup NCBI36
NG_007101.2:g.117148_117150dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.672_674dup MANE Select ENSP00000323074.4:p.Ser225_Val226insSer
ENST00000640861.1:c.617-10_617-8dup ENSP00000491773.1:n.617-10_617-8dup
ENST00000353383.5:c.672_674dup ENSP00000323074.4:p.Ser225_Val226insSer
ENST00000395774.1:c.672_674dup ENSP00000379120.1:p.Ser225_Val226insSer
NM_030665.3:c.672_674dup NP_109590.3:p.Ser225_Val226insSer
XM_017024025.1:c.672_674dup XP_016879514.1:p.Ser225_Val226insSer
XM_017024026.1:c.672_674dup XP_016879515.1:p.Ser225_Val226insSer
XM_017024027.1:c.672_674dup XP_016879516.1:p.Ser225_Val226insSer
XM_017024028.2:c.672_674dup XP_016879517.1:p.Ser225_Val226insSer
NM_030665.4:c.672_674dup MANE Select NP_109590.3:p.Ser225_Val226insSer