Canonical Allele Identifier: CA2759121194

Gene: IFT80 TRIM59-IFT80 C3orf80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282599_160282600del , CM000665.2:g.160282599_160282600del	GRCh38
NC_000003.11:g.160000387_160000388del , CM000665.1:g.160000387_160000388del	GRCh37
NC_000003.10:g.161483081_161483082del	NCBI36
NG_022932.1:g.121934_121935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1395_1396del (IFT80) MANE Select	ENSP00000312778.7:p.Glu465AspfsTer11
ENST00000326448.11:c.1395_1396del (IFT80)	ENSP00000312778.7:p.Glu465AspfsTer11
ENST00000483465.5:c.984_985del (IFT80)	ENSP00000418196.1:p.Glu328AspfsTer11
ENST00000483754.1:c.1908_1909del (TRIM59-IFT80)	ENSP00000456272.1:p.Glu636AspfsTer11
ENST00000487943.5:n.2614_2615del (IFT80)
ENST00000496589.5:c.984_985del (IFT80)	ENSP00000420646.1:p.Glu328AspfsTer11
NM_001190241.1:c.984_985del (IFT80)	NP_001177170.1:p.Glu328AspfsTer11
NM_001190242.1:c.984_985del (IFT80)	NP_001177171.1:p.Glu328AspfsTer11
NM_020800.2:c.1395_1396del (IFT80)	NP_065851.1:p.Glu465AspfsTer11
XR_924138.1:n.2900-7073_2900-7072del (C3orf80)
NR_148401.1:n.2103_2104del (TRIM59-IFT80)
NR_148402.1:n.3639_3640del (TRIM59-IFT80)
NR_148403.1:n.3906_3907del (TRIM59-IFT80)
NM_020800.3:c.1395_1396del (IFT80) MANE Select	NP_065851.1:p.Glu465AspfsTer11
NM_001190241.2:c.984_985del (IFT80)	NP_001177170.1:p.Glu328AspfsTer11
NM_001190242.2:c.984_985del (IFT80)	NP_001177171.1:p.Glu328AspfsTer11