Canonical Allele Identifier: CA2658360201

Gene: IFT172

Linked Data

• gnomAD v4: 2-27480061-AGGCAGTGATGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480062_27480074del , CM000664.2:g.27480062_27480074del	GRCh38
NC_000002.11:g.27702929_27702941del , CM000664.1:g.27702929_27702941del	GRCh37
NC_000002.10:g.27556433_27556445del	NCBI36
NG_034068.1:g.14738_14750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.861_873del MANE Select	ENSP00000260570.3:p.Thr288TrpfsTer?
ENST00000476264.7:n.1150_1162del
ENST00000674701.1:c.861_873del	ENSP00000502275.1:p.Thr288TrpfsTer?
ENST00000674824.1:c.798_810del	ENSP00000501824.1:p.Thr267TrpfsTer?
ENST00000674932.1:c.*524_*536del	ENSP00000501967.1:n.*524_*536del
ENST00000675410.1:c.180_192del	ENSP00000502030.1:p.Thr61TrpfsTer?
ENST00000675618.1:n.941_953del
ENST00000675690.1:c.861_873del	ENSP00000502283.1:p.Thr288TrpfsTer?
ENST00000675728.1:c.798_810del	ENSP00000501700.1:p.Thr267TrpfsTer?
ENST00000675729.1:c.861_873del	ENSP00000502319.1:p.Thr288TrpfsTer?
ENST00000675963.1:c.*559_*571del	ENSP00000502708.1:n.*559_*571del
ENST00000676119.1:c.*151_*163del	ENSP00000501701.1:n.*151_*163del
ENST00000676300.1:n.947_959del
ENST00000260570.7:c.861_873del	ENSP00000260570.3:p.Thr288TrpfsTer?
ENST00000359466.10:c.861_873del	ENSP00000352443.6:p.Thr288TrpfsTer?
ENST00000416524.2:c.798_810del	ENSP00000407408.2:p.Thr267TrpfsTer?
ENST00000476264.6:n.807_819del
ENST00000507184.5:n.993_1005del
ENST00000511842.5:n.886_898del
NM_015662.2:c.861_873del	NP_056477.1:p.Thr288TrpfsTer?
XM_005264254.1:c.861_873del	XP_005264311.1:p.Thr288TrpfsTer?
XM_006711986.2:c.798_810del	XP_006712049.1:p.Thr267TrpfsTer?
XM_006711987.1:c.861_873del	XP_006712050.1:p.Thr288TrpfsTer?
XM_011532757.1:c.180_192del	XP_011531059.1:p.Thr61TrpfsTer?
XM_011532758.1:c.861_873del	XP_011531060.1:p.Thr288TrpfsTer?
XM_006711986.3:c.798_810del	XP_006712049.1:p.Thr267TrpfsTer?
XM_011532757.2:c.180_192del	XP_011531059.1:p.Thr61TrpfsTer?
XM_017003790.1:c.798_810del	XP_016859279.1:p.Thr267TrpfsTer?
XM_017003791.1:c.180_192del	XP_016859280.1:p.Thr61TrpfsTer?
XM_017003792.1:c.861_873del	XP_016859281.1:p.Thr288TrpfsTer?
XM_017003793.1:c.-590_-578del	XP_016859282.1:n.-590_-578del
XM_017003794.1:c.-590_-578del	XP_016859283.1:n.-590_-578del
XM_017003795.1:c.-962_-950del	XP_016859284.1:n.-962_-950del
XR_001738698.1:n.916_928del
NM_015662.3:c.861_873del MANE Select	NP_056477.1:p.Thr288TrpfsTer?