Canonical Allele Identifier: CA547377751

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1334473701
• gnomAD v2: 3-160000449-C-CTTGTA
• MyVariant Identifiers: chr3:g.160000449_160000450insTTGTA (hg19) ; chr3:g.160282661_160282662insTTGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282661_160282662insTTGTA , CM000665.2:g.160282661_160282662insTTGTA	GRCh38
NC_000003.11:g.160000449_160000450insTTGTA , CM000665.1:g.160000449_160000450insTTGTA	GRCh37
NC_000003.10:g.161483143_161483144insTTGTA	NCBI36
NG_022932.1:g.121871_121872insTACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1381-49_1381-48insTACAA (IFT80) MANE Select	ENSP00000312778.7:n.1381-49_1381-48insTACAA
ENST00000326448.11:c.1381-49_1381-48insTACAA (IFT80)	ENSP00000312778.7:n.1381-49_1381-48insTACAA
ENST00000483465.5:c.970-49_970-48insTACAA (IFT80)	ENSP00000418196.1:n.970-49_970-48insTACAA
ENST00000483754.1:c.1894-49_1894-48insTACAA (TRIM59-IFT80)	ENSP00000456272.1:n.1894-49_1894-48insTACAA
ENST00000487943.5:n.2600-49_2600-48insTACAA (IFT80)
ENST00000496589.5:c.970-49_970-48insTACAA (IFT80)	ENSP00000420646.1:n.970-49_970-48insTACAA
NM_001190241.1:c.970-49_970-48insTACAA (IFT80)	NP_001177170.1:n.970-49_970-48insTACAA
NM_001190242.1:c.970-49_970-48insTACAA (IFT80)	NP_001177171.1:n.970-49_970-48insTACAA
NM_020800.2:c.1381-49_1381-48insTACAA (IFT80)	NP_065851.1:n.1381-49_1381-48insTACAA
XR_924138.1:n.2900-7011_2900-7010insTTGTA (C3orf80)
NR_148401.1:n.2089-49_2089-48insTACAA (TRIM59-IFT80)
NR_148402.1:n.3625-49_3625-48insTACAA (TRIM59-IFT80)
NR_148403.1:n.3892-49_3892-48insTACAA (TRIM59-IFT80)
NM_020800.3:c.1381-49_1381-48insTACAA (IFT80) MANE Select	NP_065851.1:n.1381-49_1381-48insTACAA
NM_001190241.2:c.970-49_970-48insTACAA (IFT80)	NP_001177170.1:n.970-49_970-48insTACAA
NM_001190242.2:c.970-49_970-48insTACAA (IFT80)	NP_001177171.1:n.970-49_970-48insTACAA