Canonical Allele Identifier: CA2759121197

Gene: IFT80 TRIM59-IFT80 C3orf80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282607_160282608insAG , CM000665.2:g.160282607_160282608insAG	GRCh38
NC_000003.11:g.160000395_160000396insAG , CM000665.1:g.160000395_160000396insAG	GRCh37
NC_000003.10:g.161483089_161483090insAG	NCBI36
NG_022932.1:g.121925_121926insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1386_1387insCT (IFT80) MANE Select	ENSP00000312778.7:p.Ile463LeufsTer?
ENST00000326448.11:c.1386_1387insCT (IFT80)	ENSP00000312778.7:p.Ile463LeufsTer?
ENST00000483465.5:c.975_976insCT (IFT80)	ENSP00000418196.1:p.Ile326LeufsTer?
ENST00000483754.1:c.1899_1900insCT (TRIM59-IFT80)	ENSP00000456272.1:p.Ile634LeufsTer?
ENST00000487943.5:n.2605_2606insCT (IFT80)
ENST00000496589.5:c.975_976insCT (IFT80)	ENSP00000420646.1:p.Ile326LeufsTer?
NM_001190241.1:c.975_976insCT (IFT80)	NP_001177170.1:p.Ile326LeufsTer?
NM_001190242.1:c.975_976insCT (IFT80)	NP_001177171.1:p.Ile326LeufsTer?
NM_020800.2:c.1386_1387insCT (IFT80)	NP_065851.1:p.Ile463LeufsTer?
XR_924138.1:n.2900-7065_2900-7064insAG (C3orf80)
NR_148401.1:n.2094_2095insCT (TRIM59-IFT80)
NR_148402.1:n.3630_3631insCT (TRIM59-IFT80)
NR_148403.1:n.3897_3898insCT (TRIM59-IFT80)
NM_020800.3:c.1386_1387insCT (IFT80) MANE Select	NP_065851.1:p.Ile463LeufsTer?
NM_001190241.2:c.975_976insCT (IFT80)	NP_001177170.1:p.Ile326LeufsTer?
NM_001190242.2:c.975_976insCT (IFT80)	NP_001177171.1:p.Ile326LeufsTer?