Canonical Allele Identifier: CA2658359065

Gene: IFT172

Linked Data

• gnomAD v4: 2-27477207-GTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477208_27477210del , CM000664.2:g.27477208_27477210del	GRCh38
NC_000002.11:g.27700075_27700077del , CM000664.1:g.27700075_27700077del	GRCh37
NC_000002.10:g.27553579_27553581del	NCBI36
NG_034068.1:g.17602_17604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1325+7_1325+9del MANE Select	ENSP00000260570.3:n.1325+7_1325+9del
ENST00000476264.7:n.1621_1623del
ENST00000674701.1:c.1325+7_1325+9del	ENSP00000502275.1:n.1325+7_1325+9del
ENST00000674824.1:c.1262+7_1262+9del	ENSP00000501824.1:n.1262+7_1262+9del
ENST00000674932.1:c.*988+7_*988+9del	ENSP00000501967.1:n.*988+7_*988+9del
ENST00000675410.1:c.644+7_644+9del	ENSP00000502030.1:n.644+7_644+9del
ENST00000675618.1:n.1412_1414del
ENST00000675690.1:c.1325+7_1325+9del	ENSP00000502283.1:n.1325+7_1325+9del
ENST00000675728.1:c.1262+7_1262+9del	ENSP00000501700.1:n.1262+7_1262+9del
ENST00000675729.1:c.1325+7_1325+9del	ENSP00000502319.1:n.1325+7_1325+9del
ENST00000675963.1:c.*1023+7_*1023+9del	ENSP00000502708.1:n.*1023+7_*1023+9del
ENST00000676119.1:c.*615+7_*615+9del	ENSP00000501701.1:n.*615+7_*615+9del
ENST00000676300.1:n.1656_1658del
ENST00000260570.7:c.1325+7_1325+9del	ENSP00000260570.3:n.1325+7_1325+9del
ENST00000359466.10:c.1325+7_1325+9del	ENSP00000352443.6:n.1325+7_1325+9del
ENST00000416524.2:c.1262+7_1262+9del	ENSP00000407408.2:n.1262+7_1262+9del
ENST00000476264.6:n.1278_1280del
ENST00000507184.5:n.1457+7_1457+9del
ENST00000511842.5:n.1350+7_1350+9del
NM_015662.2:c.1325+7_1325+9del	NP_056477.1:n.1325+7_1325+9del
XM_005264254.1:c.1325+7_1325+9del	XP_005264311.1:n.1325+7_1325+9del
XM_006711986.2:c.1262+7_1262+9del	XP_006712049.1:n.1262+7_1262+9del
XM_006711987.1:c.1325+7_1325+9del	XP_006712050.1:n.1325+7_1325+9del
XM_011532757.1:c.644+7_644+9del	XP_011531059.1:n.644+7_644+9del
XM_011532758.1:c.1325+7_1325+9del	XP_011531060.1:n.1325+7_1325+9del
XM_006711986.3:c.1262+7_1262+9del	XP_006712049.1:n.1262+7_1262+9del
XM_011532757.2:c.644+7_644+9del	XP_011531059.1:n.644+7_644+9del
XM_017003790.1:c.1262+7_1262+9del	XP_016859279.1:n.1262+7_1262+9del
XM_017003791.1:c.644+7_644+9del	XP_016859280.1:n.644+7_644+9del
XM_017003792.1:c.1325+7_1325+9del	XP_016859281.1:n.1325+7_1325+9del
XM_017003793.1:c.-126+7_-126+9del	XP_016859282.1:n.-126+7_-126+9del
XM_017003794.1:c.-126+7_-126+9del	XP_016859283.1:n.-126+7_-126+9del
XM_017003795.1:c.-498+7_-498+9del	XP_016859284.1:n.-498+7_-498+9del
XR_001738698.1:n.1380+7_1380+9del
NM_015662.3:c.1325+7_1325+9del MANE Select	NP_056477.1:n.1325+7_1325+9del