Canonical Allele Identifier: CA2580098173

Gene: IFT52

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43596474_43596475delinsAG , CM000682.2:g.43596474_43596475delinsAG	GRCh38
NC_000020.10:g.42225114_42225115delinsAG , CM000682.1:g.42225114_42225115delinsAG	GRCh37
NC_000020.9:g.41658528_41658529delinsAG	NCBI36
NG_051913.1:g.10862_10863delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373030.8:c.159_160delinsAG MANE Select	ENSP00000362121.3:p.Lys54Glu
ENST00000373030.7:c.159_160delinsAG	ENSP00000362121.3:p.Lys54Glu
ENST00000373039.4:c.159_160delinsAG	ENSP00000362130.4:p.Lys54Glu
ENST00000486243.1:n.136_137delinsAG
NM_001303458.1:c.159_160delinsAG	NP_001290387.1:p.Lys54Glu
NM_001303459.1:c.159_160delinsAG	NP_001290388.1:p.Lys54Glu
NM_016004.3:c.159_160delinsAG	NP_057088.2:p.Lys54Glu
NM_001303458.2:c.159_160delinsAG	NP_001290387.1:p.Lys54Glu
NM_001303459.2:c.159_160delinsAG	NP_001290388.1:p.Lys54Glu
NM_001323578.1:c.-513_-512delinsAG	NP_001310507.1:n.-513_-512delinsAG
NM_001323579.1:c.-606_-605delinsAG	NP_001310508.1:n.-606_-605delinsAG
NM_001323580.1:c.-513_-512delinsAG	NP_001310509.1:n.-513_-512delinsAG
NM_001323581.1:c.-606_-605delinsAG	NP_001310510.1:n.-606_-605delinsAG
NM_016004.4:c.159_160delinsAG	NP_057088.2:p.Lys54Glu
XM_017027863.2:c.-749_-748delinsAG	XP_016883352.1:n.-749_-748delinsAG
NM_001303458.3:c.159_160delinsAG	NP_001290387.1:p.Lys54Glu
NM_001303459.3:c.159_160delinsAG	NP_001290388.1:p.Lys54Glu
NM_001323578.2:c.-513_-512delinsAG	NP_001310507.1:n.-513_-512delinsAG
NM_001323579.2:c.-606_-605delinsAG	NP_001310508.1:n.-606_-605delinsAG
NM_001323580.2:c.-513_-512delinsAG	NP_001310509.1:n.-513_-512delinsAG
NM_001323581.2:c.-606_-605delinsAG	NP_001310510.1:n.-606_-605delinsAG
NM_016004.5:c.159_160delinsAG MANE Select	NP_057088.2:p.Lys54Glu