Canonical Allele Identifier: CA9866981

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43620887_43620888del , CM000682.2:g.43620887_43620888del	GRCh38
NC_000020.10:g.42249527_42249528del , CM000682.1:g.42249527_42249528del	GRCh37
NC_000020.9:g.41682941_41682942del	NCBI36
NG_051913.1:g.35275_35276del

Transcript Alleles

HGVS	Amino-acid Change
NM_016004.5:c.730_731del MANE Select	NP_057088.2:p.Asp244HisfsTer7
ENST00000373030.8:c.730_731del MANE Select	ENSP00000362121.3:p.Asp244HisfsTer7
NM_001303458.1:c.730_731del	NP_001290387.1:p.Asp244HisfsTer7
NM_001303458.2:c.730_731del	NP_001290387.1:p.Asp244HisfsTer7
NM_001303458.3:c.730_731del	NP_001290387.1:p.Asp244HisfsTer7
NM_001303459.1:c.730_731del	NP_001290388.1:p.Asp244HisfsTer7
NM_001303459.2:c.730_731del	NP_001290388.1:p.Asp244HisfsTer7
NM_001303459.3:c.730_731del	NP_001290388.1:p.Asp244HisfsTer7
NM_001323578.1:c.202_203del	NP_001310507.1:p.Asp68HisfsTer7
NM_001323578.2:c.202_203del	NP_001310507.1:p.Asp68HisfsTer7
NM_001323579.1:c.79_80del	NP_001310508.1:p.Asp27HisfsTer7
NM_001323579.2:c.79_80del	NP_001310508.1:p.Asp27HisfsTer7
NM_001323580.1:c.202_203del	NP_001310509.1:p.Asp68HisfsTer7
NM_001323580.2:c.202_203del	NP_001310509.1:p.Asp68HisfsTer7
NM_001323581.1:c.79_80del	NP_001310510.1:p.Asp27HisfsTer7
NM_001323581.2:c.79_80del	NP_001310510.1:p.Asp27HisfsTer7
NM_016004.3:c.730_731del	NP_057088.2:p.Asp244HisfsTer7
NM_016004.4:c.730_731del	NP_057088.2:p.Asp244HisfsTer7
ENST00000373030.7:c.730_731del	ENSP00000362121.3:p.Asp244HisfsTer7
ENST00000373039.4:c.730_731del	ENSP00000362130.4:p.Asp244HisfsTer7
ENST00000460014.1:n.129_130del
ENST00000467024.5:n.245_246del
ENST00000468420.5:n.307_308del
XM_011528840.1:c.202_203del	XP_011527142.1:p.Asp68HisfsTer7
XM_011528841.1:c.79_80del	XP_011527143.1:p.Asp27HisfsTer7
XM_017027863.2:c.79_80del	XP_016883352.1:p.Asp27HisfsTer7