Canonical Allele Identifier: CA1055565037

Gene: IFT80 TRIM59-IFT80 C3orf80

Linked Data

• dbSNP Id: rs1714775273
• gnomAD v3: 3-160282642-GGTTA-G
• gnomAD v4: 3-160282642-GGTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282646_160282649del , CM000665.2:g.160282646_160282649del	GRCh38
NC_000003.11:g.160000434_160000437del , CM000665.1:g.160000434_160000437del	GRCh37
NC_000003.10:g.161483128_161483131del	NCBI36
NG_022932.1:g.121887_121890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1381-33_1381-30del (IFT80) MANE Select	ENSP00000312778.7:n.1381-33_1381-30del
ENST00000326448.11:c.1381-33_1381-30del (IFT80)	ENSP00000312778.7:n.1381-33_1381-30del
ENST00000483465.5:c.970-33_970-30del (IFT80)	ENSP00000418196.1:n.970-33_970-30del
ENST00000483754.1:c.1894-33_1894-30del (TRIM59-IFT80)	ENSP00000456272.1:n.1894-33_1894-30del
ENST00000487943.5:n.2600-33_2600-30del (IFT80)
ENST00000496589.5:c.970-33_970-30del (IFT80)	ENSP00000420646.1:n.970-33_970-30del
NM_001190241.1:c.970-33_970-30del (IFT80)	NP_001177170.1:n.970-33_970-30del
NM_001190242.1:c.970-33_970-30del (IFT80)	NP_001177171.1:n.970-33_970-30del
NM_020800.2:c.1381-33_1381-30del (IFT80)	NP_065851.1:n.1381-33_1381-30del
XR_924138.1:n.2900-7026_2900-7023del (C3orf80)
NR_148401.1:n.2089-33_2089-30del (TRIM59-IFT80)
NR_148402.1:n.3625-33_3625-30del (TRIM59-IFT80)
NR_148403.1:n.3892-33_3892-30del (TRIM59-IFT80)
NM_020800.3:c.1381-33_1381-30del (IFT80) MANE Select	NP_065851.1:n.1381-33_1381-30del
NM_001190241.2:c.970-33_970-30del (IFT80)	NP_001177170.1:n.970-33_970-30del
NM_001190242.2:c.970-33_970-30del (IFT80)	NP_001177171.1:n.970-33_970-30del