Canonical Allele Identifier: CA2759121195

Gene: IFT80 TRIM59-IFT80 C3orf80

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.160282601_160282603del , CM000665.2:g.160282601_160282603del	GRCh38
NC_000003.11:g.160000389_160000391del , CM000665.1:g.160000389_160000391del	GRCh37
NC_000003.10:g.161483083_161483085del	NCBI36
NG_022932.1:g.121930_121932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326448.12:c.1391_1393del (IFT80) MANE Select	ENSP00000312778.7:p.Leu464Ter
ENST00000326448.11:c.1391_1393del (IFT80)	ENSP00000312778.7:p.Leu464Ter
ENST00000483465.5:c.980_982del (IFT80)	ENSP00000418196.1:p.Leu327Ter
ENST00000483754.1:c.1904_1906del (TRIM59-IFT80)	ENSP00000456272.1:p.Leu635Ter
ENST00000487943.5:n.2610_2612del (IFT80)
ENST00000496589.5:c.980_982del (IFT80)	ENSP00000420646.1:p.Leu327Ter
NM_001190241.1:c.980_982del (IFT80)	NP_001177170.1:p.Leu327Ter
NM_001190242.1:c.980_982del (IFT80)	NP_001177171.1:p.Leu327Ter
NM_020800.2:c.1391_1393del (IFT80)	NP_065851.1:p.Leu464Ter
XR_924138.1:n.2900-7071_2900-7069del (C3orf80)
NR_148401.1:n.2099_2101del (TRIM59-IFT80)
NR_148402.1:n.3635_3637del (TRIM59-IFT80)
NR_148403.1:n.3902_3904del (TRIM59-IFT80)
NM_020800.3:c.1391_1393del (IFT80) MANE Select	NP_065851.1:p.Leu464Ter
NM_001190241.2:c.980_982del (IFT80)	NP_001177170.1:p.Leu327Ter
NM_001190242.2:c.980_982del (IFT80)	NP_001177171.1:p.Leu327Ter