Canonical Allele Identifier: CA1415115583

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1714784319
• gnomAD v4: 3-160282736-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282739_160282740del , CM000665.2:g.160282739_160282740del	GRCh38
NC_000003.11:g.160000527_160000528del , CM000665.1:g.160000527_160000528del	GRCh37
NC_000003.10:g.161483221_161483222del	NCBI36
NG_022932.1:g.121795_121796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1381-125_1381-124del (IFT80) MANE Select	ENSP00000312778.7:n.1381-125_1381-124del
ENST00000326448.11:c.1381-125_1381-124del (IFT80)	ENSP00000312778.7:n.1381-125_1381-124del
ENST00000483465.5:c.970-125_970-124del (IFT80)	ENSP00000418196.1:n.970-125_970-124del
ENST00000483754.1:c.1894-125_1894-124del (TRIM59-IFT80)	ENSP00000456272.1:n.1894-125_1894-124del
ENST00000487943.5:n.2600-125_2600-124del (IFT80)
ENST00000496589.5:c.970-125_970-124del (IFT80)	ENSP00000420646.1:n.970-125_970-124del
NM_001190241.1:c.970-125_970-124del (IFT80)	NP_001177170.1:n.970-125_970-124del
NM_001190242.1:c.970-125_970-124del (IFT80)	NP_001177171.1:n.970-125_970-124del
NM_020800.2:c.1381-125_1381-124del (IFT80)	NP_065851.1:n.1381-125_1381-124del
XR_924138.1:n.2900-6933_2900-6932del (C3orf80)
NR_148401.1:n.2089-125_2089-124del (TRIM59-IFT80)
NR_148402.1:n.3625-125_3625-124del (TRIM59-IFT80)
NR_148403.1:n.3892-125_3892-124del (TRIM59-IFT80)
NM_020800.3:c.1381-125_1381-124del (IFT80) MANE Select	NP_065851.1:n.1381-125_1381-124del
NM_001190241.2:c.970-125_970-124del (IFT80)	NP_001177170.1:n.970-125_970-124del
NM_001190242.2:c.970-125_970-124del (IFT80)	NP_001177171.1:n.970-125_970-124del