Canonical Allele Identifier: CA2759121250
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160282683_160282684insACT , CM000665.2:g.160282683_160282684insACT GRCh38
NC_000003.11:g.160000471_160000472insACT , CM000665.1:g.160000471_160000472insACT GRCh37
NC_000003.10:g.161483165_161483166insACT NCBI36
NG_022932.1:g.121849_121850insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.1381-71_1381-70insAGT (IFT80) MANE Select ENSP00000312778.7:n.1381-71_1381-70insAGT
ENST00000326448.11:c.1381-71_1381-70insAGT (IFT80) ENSP00000312778.7:n.1381-71_1381-70insAGT
ENST00000483465.5:c.970-71_970-70insAGT (IFT80) ENSP00000418196.1:n.970-71_970-70insAGT
ENST00000483754.1:c.1894-71_1894-70insAGT (TRIM59-IFT80) ENSP00000456272.1:n.1894-71_1894-70insAGT
ENST00000487943.5:n.2600-71_2600-70insAGT (IFT80)
ENST00000496589.5:c.970-71_970-70insAGT (IFT80) ENSP00000420646.1:n.970-71_970-70insAGT
NM_001190241.1:c.970-71_970-70insAGT (IFT80) NP_001177170.1:n.970-71_970-70insAGT
NM_001190242.1:c.970-71_970-70insAGT (IFT80) NP_001177171.1:n.970-71_970-70insAGT
NM_020800.2:c.1381-71_1381-70insAGT (IFT80) NP_065851.1:n.1381-71_1381-70insAGT
XR_924138.1:n.2900-6989_2900-6988insACT (C3orf80)
NR_148401.1:n.2089-71_2089-70insAGT (TRIM59-IFT80)
NR_148402.1:n.3625-71_3625-70insAGT (TRIM59-IFT80)
NR_148403.1:n.3892-71_3892-70insAGT (TRIM59-IFT80)
NM_020800.3:c.1381-71_1381-70insAGT (IFT80) MANE Select NP_065851.1:n.1381-71_1381-70insAGT
NM_001190241.2:c.970-71_970-70insAGT (IFT80) NP_001177170.1:n.970-71_970-70insAGT
NM_001190242.2:c.970-71_970-70insAGT (IFT80) NP_001177171.1:n.970-71_970-70insAGT