Canonical Allele Identifier: CA2658359066

Gene: IFT172

Linked Data

• gnomAD v4: 2-27477210-A-AGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477211_27477214dup , CM000664.2:g.27477211_27477214dup	GRCh38
NC_000002.11:g.27700078_27700081dup , CM000664.1:g.27700078_27700081dup	GRCh37
NC_000002.10:g.27553582_27553585dup	NCBI36
NG_034068.1:g.17598_17601dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1325+3_1325+6dup MANE Select	ENSP00000260570.3:n.1325+3_1325+6dup
ENST00000476264.7:n.1617_1620dup
ENST00000674701.1:c.1325+3_1325+6dup	ENSP00000502275.1:n.1325+3_1325+6dup
ENST00000674824.1:c.1262+3_1262+6dup	ENSP00000501824.1:n.1262+3_1262+6dup
ENST00000674932.1:c.*988+3_*988+6dup	ENSP00000501967.1:n.*988+3_*988+6dup
ENST00000675410.1:c.644+3_644+6dup	ENSP00000502030.1:n.644+3_644+6dup
ENST00000675618.1:n.1408_1411dup
ENST00000675690.1:c.1325+3_1325+6dup	ENSP00000502283.1:n.1325+3_1325+6dup
ENST00000675728.1:c.1262+3_1262+6dup	ENSP00000501700.1:n.1262+3_1262+6dup
ENST00000675729.1:c.1325+3_1325+6dup	ENSP00000502319.1:n.1325+3_1325+6dup
ENST00000675963.1:c.*1023+3_*1023+6dup	ENSP00000502708.1:n.*1023+3_*1023+6dup
ENST00000676119.1:c.*615+3_*615+6dup	ENSP00000501701.1:n.*615+3_*615+6dup
ENST00000676300.1:n.1652_1655dup
ENST00000260570.7:c.1325+3_1325+6dup	ENSP00000260570.3:n.1325+3_1325+6dup
ENST00000359466.10:c.1325+3_1325+6dup	ENSP00000352443.6:n.1325+3_1325+6dup
ENST00000416524.2:c.1262+3_1262+6dup	ENSP00000407408.2:n.1262+3_1262+6dup
ENST00000476264.6:n.1274_1277dup
ENST00000507184.5:n.1457+3_1457+6dup
ENST00000511842.5:n.1350+3_1350+6dup
NM_015662.2:c.1325+3_1325+6dup	NP_056477.1:n.1325+3_1325+6dup
XM_005264254.1:c.1325+3_1325+6dup	XP_005264311.1:n.1325+3_1325+6dup
XM_006711986.2:c.1262+3_1262+6dup	XP_006712049.1:n.1262+3_1262+6dup
XM_006711987.1:c.1325+3_1325+6dup	XP_006712050.1:n.1325+3_1325+6dup
XM_011532757.1:c.644+3_644+6dup	XP_011531059.1:n.644+3_644+6dup
XM_011532758.1:c.1325+3_1325+6dup	XP_011531060.1:n.1325+3_1325+6dup
XM_006711986.3:c.1262+3_1262+6dup	XP_006712049.1:n.1262+3_1262+6dup
XM_011532757.2:c.644+3_644+6dup	XP_011531059.1:n.644+3_644+6dup
XM_017003790.1:c.1262+3_1262+6dup	XP_016859279.1:n.1262+3_1262+6dup
XM_017003791.1:c.644+3_644+6dup	XP_016859280.1:n.644+3_644+6dup
XM_017003792.1:c.1325+3_1325+6dup	XP_016859281.1:n.1325+3_1325+6dup
XM_017003793.1:c.-126+3_-126+6dup	XP_016859282.1:n.-126+3_-126+6dup
XM_017003794.1:c.-126+3_-126+6dup	XP_016859283.1:n.-126+3_-126+6dup
XM_017003795.1:c.-498+3_-498+6dup	XP_016859284.1:n.-498+3_-498+6dup
XR_001738698.1:n.1380+3_1380+6dup
NM_015662.3:c.1325+3_1325+6dup MANE Select	NP_056477.1:n.1325+3_1325+6dup