Canonical Allele Identifier: CA2658359068

Gene: IFT172

Linked Data

• gnomAD v4: 2-27477225-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477226dup , CM000664.2:g.27477226dup	GRCh38
NC_000002.11:g.27700093dup , CM000664.1:g.27700093dup	GRCh37
NC_000002.10:g.27553597dup	NCBI36
NG_034068.1:g.17586dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1316dup MANE Select	ENSP00000260570.3:p.His439GlnfsTer8
ENST00000476264.7:n.1605dup
ENST00000674701.1:c.1316dup	ENSP00000502275.1:p.His439GlnfsTer8
ENST00000674824.1:c.1253dup	ENSP00000501824.1:p.His418GlnfsTer8
ENST00000674932.1:c.*979dup	ENSP00000501967.1:n.*979dup
ENST00000675410.1:c.635dup	ENSP00000502030.1:p.His212GlnfsTer8
ENST00000675618.1:n.1396dup
ENST00000675690.1:c.1316dup	ENSP00000502283.1:p.His439GlnfsTer8
ENST00000675728.1:c.1253dup	ENSP00000501700.1:p.His418GlnfsTer8
ENST00000675729.1:c.1316dup	ENSP00000502319.1:p.His439GlnfsTer7
ENST00000675963.1:c.*1014dup	ENSP00000502708.1:n.*1014dup
ENST00000676119.1:c.*606dup	ENSP00000501701.1:n.*606dup
ENST00000676300.1:n.1640dup
ENST00000260570.7:c.1316dup	ENSP00000260570.3:p.His439GlnfsTer8
ENST00000359466.10:c.1316dup	ENSP00000352443.6:p.His439GlnfsTer8
ENST00000416524.2:c.1253dup	ENSP00000407408.2:p.His418GlnfsTer8
ENST00000476264.6:n.1262dup
ENST00000507184.5:n.1448dup
ENST00000511842.5:n.1341dup
NM_015662.2:c.1316dup	NP_056477.1:p.His439GlnfsTer8
XM_005264254.1:c.1316dup	XP_005264311.1:p.His439GlnfsTer8
XM_006711986.2:c.1253dup	XP_006712049.1:p.His418GlnfsTer8
XM_006711987.1:c.1316dup	XP_006712050.1:p.His439GlnfsTer8
XM_011532757.1:c.635dup	XP_011531059.1:p.His212GlnfsTer8
XM_011532758.1:c.1316dup	XP_011531060.1:p.His439GlnfsTer8
XM_006711986.3:c.1253dup	XP_006712049.1:p.His418GlnfsTer8
XM_011532757.2:c.635dup	XP_011531059.1:p.His212GlnfsTer8
XM_017003790.1:c.1253dup	XP_016859279.1:p.His418GlnfsTer8
XM_017003791.1:c.635dup	XP_016859280.1:p.His212GlnfsTer8
XM_017003792.1:c.1316dup	XP_016859281.1:p.His439GlnfsTer8
XM_017003793.1:c.-135dup	XP_016859282.1:n.-135dup
XM_017003794.1:c.-135dup	XP_016859283.1:n.-135dup
XM_017003795.1:c.-507dup	XP_016859284.1:n.-507dup
XR_001738698.1:n.1371dup
NM_015662.3:c.1316dup MANE Select	NP_056477.1:p.His439GlnfsTer8