Canonical Allele Identifier: CA2749271179

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27479650_27479828del , CM000664.2:g.27479650_27479828del	GRCh38
NC_000002.11:g.27702517_27702695del , CM000664.1:g.27702517_27702695del	GRCh37
NC_000002.10:g.27556021_27556199del	NCBI36
NG_034068.1:g.14989_15167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.909+203_910-41del MANE Select	ENSP00000260570.3:n.909+203_910-41del
ENST00000476264.7:n.1198+203_1199-41del
ENST00000674701.1:c.909+203_910-41del	ENSP00000502275.1:n.909+203_910-41del
ENST00000674824.1:c.846+203_847-41del	ENSP00000501824.1:n.846+203_847-41del
ENST00000674932.1:c.*572+203_*573-41del	ENSP00000501967.1:n.*572+203_*573-41del
ENST00000675410.1:c.228+203_229-41del	ENSP00000502030.1:n.228+203_229-41del
ENST00000675618.1:n.989+203_990-41del
ENST00000675690.1:c.909+203_910-41del	ENSP00000502283.1:n.909+203_910-41del
ENST00000675728.1:c.846+203_847-41del	ENSP00000501700.1:n.846+203_847-41del
ENST00000675729.1:c.909+203_910-41del	ENSP00000502319.1:n.909+203_910-41del
ENST00000675963.1:c.*607+203_*608-41del	ENSP00000502708.1:n.*607+203_*608-41del
ENST00000676119.1:c.*199+203_*200-41del	ENSP00000501701.1:n.*199+203_*200-41del
ENST00000676300.1:n.995+203_996-41del
ENST00000260570.7:c.909+203_910-41del	ENSP00000260570.3:n.909+203_910-41del
ENST00000359466.10:c.909+203_910-41del	ENSP00000352443.6:n.909+203_910-41del
ENST00000416524.2:c.846+203_847-41del	ENSP00000407408.2:n.846+203_847-41del
ENST00000476264.6:n.855+203_856-41del
ENST00000507184.5:n.1041+203_1042-41del
ENST00000511842.5:n.934+203_935-41del
NM_015662.2:c.909+203_910-41del	NP_056477.1:n.909+203_910-41del
XM_005264254.1:c.909+203_910-41del	XP_005264311.1:n.909+203_910-41del
XM_006711986.2:c.846+203_847-41del	XP_006712049.1:n.846+203_847-41del
XM_006711987.1:c.909+203_910-41del	XP_006712050.1:n.909+203_910-41del
XM_011532757.1:c.228+203_229-41del	XP_011531059.1:n.228+203_229-41del
XM_011532758.1:c.909+203_910-41del	XP_011531060.1:n.909+203_910-41del
XM_006711986.3:c.846+203_847-41del	XP_006712049.1:n.846+203_847-41del
XM_011532757.2:c.228+203_229-41del	XP_011531059.1:n.228+203_229-41del
XM_017003790.1:c.846+203_847-41del	XP_016859279.1:n.846+203_847-41del
XM_017003791.1:c.228+203_229-41del	XP_016859280.1:n.228+203_229-41del
XM_017003792.1:c.909+203_910-41del	XP_016859281.1:n.909+203_910-41del
XM_017003793.1:c.-542+203_-541-41del	XP_016859282.1:n.-542+203_-541-41del
XM_017003794.1:c.-542+203_-541-41del	XP_016859283.1:n.-542+203_-541-41del
XM_017003795.1:c.-914+203_-913-41del	XP_016859284.1:n.-914+203_-913-41del
XR_001738698.1:n.964+203_965-41del
NM_015662.3:c.909+203_910-41del MANE Select	NP_056477.1:n.909+203_910-41del