Canonical Allele Identifier: CA2749271319

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480282_27480288del , CM000664.2:g.27480282_27480288del	GRCh38
NC_000002.11:g.27703149_27703155del , CM000664.1:g.27703149_27703155del	GRCh37
NC_000002.10:g.27556653_27556659del	NCBI36
NG_034068.1:g.14524_14530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.786-139_786-133del MANE Select	ENSP00000260570.3:n.786-139_786-133del
ENST00000476264.7:n.1075-139_1075-133del
ENST00000674701.1:c.786-139_786-133del	ENSP00000502275.1:n.786-139_786-133del
ENST00000674824.1:c.723-139_723-133del	ENSP00000501824.1:n.723-139_723-133del
ENST00000674932.1:c.*449-139_*449-133del	ENSP00000501967.1:n.*449-139_*449-133del
ENST00000675410.1:c.105-139_105-133del	ENSP00000502030.1:n.105-139_105-133del
ENST00000675618.1:n.866-139_866-133del
ENST00000675690.1:c.786-139_786-133del	ENSP00000502283.1:n.786-139_786-133del
ENST00000675728.1:c.723-139_723-133del	ENSP00000501700.1:n.723-139_723-133del
ENST00000675729.1:c.786-139_786-133del	ENSP00000502319.1:n.786-139_786-133del
ENST00000675963.1:c.*484-139_*484-133del	ENSP00000502708.1:n.*484-139_*484-133del
ENST00000676119.1:c.*76-139_*76-133del	ENSP00000501701.1:n.*76-139_*76-133del
ENST00000676300.1:n.872-139_872-133del
ENST00000260570.7:c.786-139_786-133del	ENSP00000260570.3:n.786-139_786-133del
ENST00000359466.10:c.786-139_786-133del	ENSP00000352443.6:n.786-139_786-133del
ENST00000416524.2:c.723-139_723-133del	ENSP00000407408.2:n.723-139_723-133del
ENST00000476264.6:n.732-139_732-133del
ENST00000507184.5:n.918-139_918-133del
ENST00000511842.5:n.811-139_811-133del
NM_015662.2:c.786-139_786-133del	NP_056477.1:n.786-139_786-133del
XM_005264254.1:c.786-139_786-133del	XP_005264311.1:n.786-139_786-133del
XM_006711986.2:c.723-139_723-133del	XP_006712049.1:n.723-139_723-133del
XM_006711987.1:c.786-139_786-133del	XP_006712050.1:n.786-139_786-133del
XM_011532757.1:c.105-139_105-133del	XP_011531059.1:n.105-139_105-133del
XM_011532758.1:c.786-139_786-133del	XP_011531060.1:n.786-139_786-133del
XM_006711986.3:c.723-139_723-133del	XP_006712049.1:n.723-139_723-133del
XM_011532757.2:c.105-139_105-133del	XP_011531059.1:n.105-139_105-133del
XM_017003790.1:c.723-139_723-133del	XP_016859279.1:n.723-139_723-133del
XM_017003791.1:c.105-139_105-133del	XP_016859280.1:n.105-139_105-133del
XM_017003792.1:c.786-139_786-133del	XP_016859281.1:n.786-139_786-133del
XM_017003793.1:c.-665-139_-665-133del	XP_016859282.1:n.-665-139_-665-133del
XM_017003794.1:c.-665-139_-665-133del	XP_016859283.1:n.-665-139_-665-133del
XM_017003795.1:c.-1037-139_-1037-133del	XP_016859284.1:n.-1037-139_-1037-133del
XR_001738698.1:n.841-139_841-133del
NM_015662.3:c.786-139_786-133del MANE Select	NP_056477.1:n.786-139_786-133del