Canonical Allele Identifier: CA2957257448
Community Standard Title: NM_020800.3(IFT80):c.552del (p.Trp184Ter)
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160357577del , CM000665.2:g.160357577del GRCh38
NC_000003.11:g.160075365del , CM000665.1:g.160075365del GRCh37
NC_000003.10:g.161558059del NCBI36
NG_022932.1:g.46957del

Transcript Alleles

HGVS Amino-acid Change
NM_020800.3:c.552del (IFT80) MANE Select NP_065851.1:p.Trp184Ter
ENST00000326448.12:c.552del (IFT80) MANE Select ENSP00000312778.7:p.Trp184Ter
NM_001190241.1:c.141del (IFT80) NP_001177170.1:p.Trp47Ter
NM_001190241.2:c.141del (IFT80) NP_001177170.1:p.Trp47Ter
NM_001190242.1:c.141del (IFT80) NP_001177171.1:p.Trp47Ter
NM_001190242.2:c.141del (IFT80) NP_001177171.1:p.Trp47Ter
NM_020800.2:c.552del (IFT80) NP_065851.1:p.Trp184Ter
NR_148401.1:n.1260del (TRIM59-IFT80)
NR_148402.1:n.2796del (TRIM59-IFT80)
NR_148403.1:n.3063del (TRIM59-IFT80)
ENST00000326448.11:c.552del (IFT80) ENSP00000312778.7:p.Trp184Ter
ENST00000465537.5:c.141del (IFT80) ENSP00000418602.1:p.Trp47Ter
ENST00000472773.5:n.566del (IFT80)
ENST00000475677.5:c.141del (IFT80) ENSP00000419458.1:p.Trp47Ter
ENST00000478460.5:n.259del (IFT80)
ENST00000483465.5:c.141del (IFT80) ENSP00000418196.1:p.Trp47Ter
ENST00000483754.1:c.1065del (TRIM59-IFT80) ENSP00000456272.1:p.Trp355Ter
ENST00000484963.5:c.157del (IFT80) ENSP00000420260.1:p.Glu53LysfsTer?
ENST00000487943.5:n.1771del (IFT80)
ENST00000496589.5:c.141del (IFT80) ENSP00000420646.1:p.Trp47Ter