Canonical Allele Identifier: CA1415115643
Gene: IFT80 HGNC NCBI
TRIM59-IFT80 HGNC NCBI
C3orf80 HGNC NCBI

Linked Data

dbSNP Id: rs1714791948

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160282827_160282828dup , CM000665.2:g.160282827_160282828dup GRCh38
NC_000003.11:g.160000615_160000616dup , CM000665.1:g.160000615_160000616dup GRCh37
NC_000003.10:g.161483309_161483310dup NCBI36
NG_022932.1:g.121706_121707dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326448.12:c.1381-214_1381-213dup (IFT80) MANE Select ENSP00000312778.7:n.1381-214_1381-213dup
ENST00000326448.11:c.1381-214_1381-213dup (IFT80) ENSP00000312778.7:n.1381-214_1381-213dup
ENST00000483465.5:c.970-214_970-213dup (IFT80) ENSP00000418196.1:n.970-214_970-213dup
ENST00000483754.1:c.1894-214_1894-213dup (TRIM59-IFT80) ENSP00000456272.1:n.1894-214_1894-213dup
ENST00000487943.5:n.2600-214_2600-213dup (IFT80)
ENST00000496589.5:c.970-214_970-213dup (IFT80) ENSP00000420646.1:n.970-214_970-213dup
NM_001190241.1:c.970-214_970-213dup (IFT80) NP_001177170.1:n.970-214_970-213dup
NM_001190242.1:c.970-214_970-213dup (IFT80) NP_001177171.1:n.970-214_970-213dup
NM_020800.2:c.1381-214_1381-213dup (IFT80) NP_065851.1:n.1381-214_1381-213dup
XR_924138.1:n.2900-6845_2900-6844dup (C3orf80)
NR_148401.1:n.2089-214_2089-213dup (TRIM59-IFT80)
NR_148402.1:n.3625-214_3625-213dup (TRIM59-IFT80)
NR_148403.1:n.3892-214_3892-213dup (TRIM59-IFT80)
NM_020800.3:c.1381-214_1381-213dup (IFT80) MANE Select NP_065851.1:n.1381-214_1381-213dup
NM_001190241.2:c.970-214_970-213dup (IFT80) NP_001177170.1:n.970-214_970-213dup
NM_001190242.2:c.970-214_970-213dup (IFT80) NP_001177171.1:n.970-214_970-213dup