Canonical Allele Identifier: CA2580093112
Community Standard Title: NM_030665.4(RAI1):c.3534_3547del (p.Asp1179AlafsTer?)
Gene: RAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17796482_17796495del , CM000679.2:g.17796482_17796495del GRCh38
NC_000017.10:g.17699796_17699809del , CM000679.1:g.17699796_17699809del GRCh37
NC_000017.9:g.17640521_17640534del NCBI36
NG_007101.2:g.120010_120023del

Transcript Alleles

HGVS Amino-acid Change
NM_030665.4:c.3534_3547del MANE Select NP_109590.3:p.Asp1179AlafsTer?
ENST00000353383.6:c.3534_3547del MANE Select ENSP00000323074.4:p.Asp1179AlafsTer?
NM_030665.3:c.3534_3547del NP_109590.3:p.Asp1179AlafsTer?
ENST00000353383.5:c.3534_3547del ENSP00000323074.4:p.Asp1179AlafsTer?
ENST00000640861.1:c.3393_3406del ENSP00000491773.1:p.Asp1132AlafsTer?
XM_017024025.1:c.3534_3547del XP_016879514.1:p.Asp1179AlafsTer?
XM_017024026.1:c.3534_3547del XP_016879515.1:p.Asp1179AlafsTer?
XM_017024027.1:c.3534_3547del XP_016879516.1:p.Asp1179AlafsTer?
XM_017024028.2:c.3534_3547del XP_016879517.1:p.Asp1179AlafsTer?