Canonical Allele Identifier: CA547377750

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1289258640
• gnomAD v2: 3-160000448-A-AT
• MyVariant Identifiers: chr3:g.160000448_160000449insT (hg19) ; chr3:g.160282660_160282661insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282660_160282661insT , CM000665.2:g.160282660_160282661insT	GRCh38
NC_000003.11:g.160000448_160000449insT , CM000665.1:g.160000448_160000449insT	GRCh37
NC_000003.10:g.161483142_161483143insT	NCBI36
NG_022932.1:g.121872_121873insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1381-48_1381-47insA (IFT80) MANE Select	ENSP00000312778.7:n.1381-48_1381-47insA
ENST00000326448.11:c.1381-48_1381-47insA (IFT80)	ENSP00000312778.7:n.1381-48_1381-47insA
ENST00000483465.5:c.970-48_970-47insA (IFT80)	ENSP00000418196.1:n.970-48_970-47insA
ENST00000483754.1:c.1894-48_1894-47insA (TRIM59-IFT80)	ENSP00000456272.1:n.1894-48_1894-47insA
ENST00000487943.5:n.2600-48_2600-47insA (IFT80)
ENST00000496589.5:c.970-48_970-47insA (IFT80)	ENSP00000420646.1:n.970-48_970-47insA
NM_001190241.1:c.970-48_970-47insA (IFT80)	NP_001177170.1:n.970-48_970-47insA
NM_001190242.1:c.970-48_970-47insA (IFT80)	NP_001177171.1:n.970-48_970-47insA
NM_020800.2:c.1381-48_1381-47insA (IFT80)	NP_065851.1:n.1381-48_1381-47insA
XR_924138.1:n.2900-7012_2900-7011insT (C3orf80)
NR_148401.1:n.2089-48_2089-47insA (TRIM59-IFT80)
NR_148402.1:n.3625-48_3625-47insA (TRIM59-IFT80)
NR_148403.1:n.3892-48_3892-47insA (TRIM59-IFT80)
NM_020800.3:c.1381-48_1381-47insA (IFT80) MANE Select	NP_065851.1:n.1381-48_1381-47insA
NM_001190241.2:c.970-48_970-47insA (IFT80)	NP_001177170.1:n.970-48_970-47insA
NM_001190242.2:c.970-48_970-47insA (IFT80)	NP_001177171.1:n.970-48_970-47insA