Canonical Allele Identifier: CA2658361219

Gene: IFT172

Linked Data

• gnomAD v4: 2-27480193-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480195_27480196del , CM000664.2:g.27480195_27480196del	GRCh38
NC_000002.11:g.27703062_27703063del , CM000664.1:g.27703062_27703063del	GRCh37
NC_000002.10:g.27556566_27556567del	NCBI36
NG_034068.1:g.14617_14618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.786-46_786-45del MANE Select	ENSP00000260570.3:n.786-46_786-45del
ENST00000476264.7:n.1075-46_1075-45del
ENST00000674701.1:c.786-46_786-45del	ENSP00000502275.1:n.786-46_786-45del
ENST00000674824.1:c.723-46_723-45del	ENSP00000501824.1:n.723-46_723-45del
ENST00000674932.1:c.*449-46_*449-45del	ENSP00000501967.1:n.*449-46_*449-45del
ENST00000675410.1:c.105-46_105-45del	ENSP00000502030.1:n.105-46_105-45del
ENST00000675618.1:n.866-46_866-45del
ENST00000675690.1:c.786-46_786-45del	ENSP00000502283.1:n.786-46_786-45del
ENST00000675728.1:c.723-46_723-45del	ENSP00000501700.1:n.723-46_723-45del
ENST00000675729.1:c.786-46_786-45del	ENSP00000502319.1:n.786-46_786-45del
ENST00000675963.1:c.*484-46_*484-45del	ENSP00000502708.1:n.*484-46_*484-45del
ENST00000676119.1:c.*76-46_*76-45del	ENSP00000501701.1:n.*76-46_*76-45del
ENST00000676300.1:n.872-46_872-45del
ENST00000260570.7:c.786-46_786-45del	ENSP00000260570.3:n.786-46_786-45del
ENST00000359466.10:c.786-46_786-45del	ENSP00000352443.6:n.786-46_786-45del
ENST00000416524.2:c.723-46_723-45del	ENSP00000407408.2:n.723-46_723-45del
ENST00000476264.6:n.732-46_732-45del
ENST00000507184.5:n.918-46_918-45del
ENST00000511842.5:n.811-46_811-45del
NM_015662.2:c.786-46_786-45del	NP_056477.1:n.786-46_786-45del
XM_005264254.1:c.786-46_786-45del	XP_005264311.1:n.786-46_786-45del
XM_006711986.2:c.723-46_723-45del	XP_006712049.1:n.723-46_723-45del
XM_006711987.1:c.786-46_786-45del	XP_006712050.1:n.786-46_786-45del
XM_011532757.1:c.105-46_105-45del	XP_011531059.1:n.105-46_105-45del
XM_011532758.1:c.786-46_786-45del	XP_011531060.1:n.786-46_786-45del
XM_006711986.3:c.723-46_723-45del	XP_006712049.1:n.723-46_723-45del
XM_011532757.2:c.105-46_105-45del	XP_011531059.1:n.105-46_105-45del
XM_017003790.1:c.723-46_723-45del	XP_016859279.1:n.723-46_723-45del
XM_017003791.1:c.105-46_105-45del	XP_016859280.1:n.105-46_105-45del
XM_017003792.1:c.786-46_786-45del	XP_016859281.1:n.786-46_786-45del
XM_017003793.1:c.-665-46_-665-45del	XP_016859282.1:n.-665-46_-665-45del
XM_017003794.1:c.-665-46_-665-45del	XP_016859283.1:n.-665-46_-665-45del
XM_017003795.1:c.-1037-46_-1037-45del	XP_016859284.1:n.-1037-46_-1037-45del
XR_001738698.1:n.841-46_841-45del
NM_015662.3:c.786-46_786-45del MANE Select	NP_056477.1:n.786-46_786-45del