Canonical Allele Identifier: CA2695224466
Gene: RAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17793496del , CM000679.2:g.17793496del GRCh38
NC_000017.10:g.17696810del , CM000679.1:g.17696810del GRCh37
NC_000017.9:g.17637535del NCBI36
NG_007101.2:g.117024del

Transcript Alleles

HGVS Amino-acid Change
ENST00000353383.6:c.548del MANE Select ENSP00000323074.4:p.Leu183ArgfsTer?
ENST00000640861.1:c.548del ENSP00000491773.1:p.Leu183ArgfsTer?
ENST00000353383.5:c.548del ENSP00000323074.4:p.Leu183ArgfsTer?
ENST00000395774.1:c.548del ENSP00000379120.1:p.Leu183ArgfsTer?
NM_030665.3:c.548del NP_109590.3:p.Leu183ArgfsTer?
XM_017024025.1:c.548del XP_016879514.1:p.Leu183ArgfsTer?
XM_017024026.1:c.548del XP_016879515.1:p.Leu183ArgfsTer?
XM_017024027.1:c.548del XP_016879516.1:p.Leu183ArgfsTer?
XM_017024028.2:c.548del XP_016879517.1:p.Leu183ArgfsTer?
NM_030665.4:c.548del MANE Select NP_109590.3:p.Leu183ArgfsTer?