Canonical Allele Identifier: CA2668375869

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• gnomAD v4: 3-160282539-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282544del , CM000665.2:g.160282544del	GRCh38
NC_000003.11:g.160000332del , CM000665.1:g.160000332del	GRCh37
NC_000003.10:g.161483026del	NCBI36
NG_022932.1:g.121993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1454del (IFT80) MANE Select	ENSP00000312778.7:p.Asn485IlefsTer9
ENST00000326448.11:c.1454del (IFT80)	ENSP00000312778.7:p.Asn485IlefsTer9
ENST00000483465.5:c.1043del (IFT80)	ENSP00000418196.1:p.Asn348IlefsTer9
ENST00000483754.1:c.1967del (TRIM59-IFT80)	ENSP00000456272.1:p.Asn656IlefsTer9
ENST00000487943.5:n.2673del (IFT80)
ENST00000496589.5:c.1043del (IFT80)	ENSP00000420646.1:p.Asn348IlefsTer9
NM_001190241.1:c.1043del (IFT80)	NP_001177170.1:p.Asn348IlefsTer9
NM_001190242.1:c.1043del (IFT80)	NP_001177171.1:p.Asn348IlefsTer9
NM_020800.2:c.1454del (IFT80)	NP_065851.1:p.Asn485IlefsTer9
XR_924138.1:n.2900-7128del (C3orf80)
NR_148401.1:n.2162del (TRIM59-IFT80)
NR_148402.1:n.3698del (TRIM59-IFT80)
NR_148403.1:n.3965del (TRIM59-IFT80)
NM_020800.3:c.1454del (IFT80) MANE Select	NP_065851.1:p.Asn485IlefsTer9
NM_001190241.2:c.1043del (IFT80)	NP_001177170.1:p.Asn348IlefsTer9
NM_001190242.2:c.1043del (IFT80)	NP_001177171.1:p.Asn348IlefsTer9