Canonical Allele Identifier: CA2685158

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• ClinVar Variation Id: 1167003
• ClinVar RCV Id: RCV001515828
• dbSNP Id: rs762163693
• ExAC: 3:160000407 A / AT
• gnomAD v2: 3-160000407-A-AT
• gnomAD v4: 3-160282619-A-AT
• MyVariant Identifiers: chr3:g.160000407_160000408insT (hg19) ; chr3:g.160282619_160282620insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282627dup , CM000665.2:g.160282627dup	GRCh38
NC_000003.11:g.160000415dup , CM000665.1:g.160000415dup	GRCh37
NC_000003.10:g.161483109dup	NCBI36
NG_022932.1:g.121913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1381-7dup (IFT80) MANE Select	ENSP00000312778.7:n.1381-7dup
ENST00000326448.11:c.1381-7dup (IFT80)	ENSP00000312778.7:n.1381-7dup
ENST00000483465.5:c.970-7dup (IFT80)	ENSP00000418196.1:n.970-7dup
ENST00000483754.1:c.1894-7dup (TRIM59-IFT80)	ENSP00000456272.1:n.1894-7dup
ENST00000487943.5:n.2600-7dup (IFT80)
ENST00000496589.5:c.970-7dup (IFT80)	ENSP00000420646.1:n.970-7dup
NM_001190241.1:c.970-7dup (IFT80)	NP_001177170.1:n.970-7dup
NM_001190242.1:c.970-7dup (IFT80)	NP_001177171.1:n.970-7dup
NM_020800.2:c.1381-7dup (IFT80)	NP_065851.1:n.1381-7dup
XR_924138.1:n.2900-7045dup (C3orf80)
NR_148401.1:n.2089-7dup (TRIM59-IFT80)
NR_148402.1:n.3625-7dup (TRIM59-IFT80)
NR_148403.1:n.3892-7dup (TRIM59-IFT80)
NM_020800.3:c.1381-7dup (IFT80) MANE Select	NP_065851.1:n.1381-7dup
NM_001190241.2:c.970-7dup (IFT80)	NP_001177170.1:n.970-7dup
NM_001190242.2:c.970-7dup (IFT80)	NP_001177171.1:n.970-7dup