Canonical Allele Identifier: CA2573136699

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• ClinVar Variation Id: 1451633
• ClinVar RCV Id: RCV002035346
• dbSNP Id: rs2108234807

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282606del , CM000665.2:g.160282606del	GRCh38
NC_000003.11:g.160000394del , CM000665.1:g.160000394del	GRCh37
NC_000003.10:g.161483088del	NCBI36
NG_022932.1:g.121927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1388del (IFT80) MANE Select	ENSP00000312778.7:p.Ile463ThrfsTer?
ENST00000326448.11:c.1388del (IFT80)	ENSP00000312778.7:p.Ile463ThrfsTer?
ENST00000483465.5:c.977del (IFT80)	ENSP00000418196.1:p.Ile326ThrfsTer?
ENST00000483754.1:c.1901del (TRIM59-IFT80)	ENSP00000456272.1:p.Ile634ThrfsTer?
ENST00000487943.5:n.2607del (IFT80)
ENST00000496589.5:c.977del (IFT80)	ENSP00000420646.1:p.Ile326ThrfsTer?
NM_001190241.1:c.977del (IFT80)	NP_001177170.1:p.Ile326ThrfsTer?
NM_001190242.1:c.977del (IFT80)	NP_001177171.1:p.Ile326ThrfsTer?
NM_020800.2:c.1388del (IFT80)	NP_065851.1:p.Ile463ThrfsTer?
XR_924138.1:n.2900-7066del (C3orf80)
NR_148401.1:n.2096del (TRIM59-IFT80)
NR_148402.1:n.3632del (TRIM59-IFT80)
NR_148403.1:n.3899del (TRIM59-IFT80)
NM_020800.3:c.1388del (IFT80) MANE Select	NP_065851.1:p.Ile463ThrfsTer?
NM_001190241.2:c.977del (IFT80)	NP_001177170.1:p.Ile326ThrfsTer?
NM_001190242.2:c.977del (IFT80)	NP_001177171.1:p.Ile326ThrfsTer?