Canonical Allele Identifier: CA2749270838

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477405_27477408del , CM000664.2:g.27477405_27477408del	GRCh38
NC_000002.11:g.27700272_27700275del , CM000664.1:g.27700272_27700275del	GRCh37
NC_000002.10:g.27553776_27553779del	NCBI36
NG_034068.1:g.17405_17408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.1222-87_1222-84del MANE Select	ENSP00000260570.3:n.1222-87_1222-84del
ENST00000476264.7:n.1511-87_1511-84del
ENST00000674701.1:c.1222-87_1222-84del	ENSP00000502275.1:n.1222-87_1222-84del
ENST00000674824.1:c.1159-87_1159-84del	ENSP00000501824.1:n.1159-87_1159-84del
ENST00000674932.1:c.*885-87_*885-84del	ENSP00000501967.1:n.*885-87_*885-84del
ENST00000675410.1:c.541-87_541-84del	ENSP00000502030.1:n.541-87_541-84del
ENST00000675618.1:n.1302-87_1302-84del
ENST00000675690.1:c.1222-87_1222-84del	ENSP00000502283.1:n.1222-87_1222-84del
ENST00000675728.1:c.1159-87_1159-84del	ENSP00000501700.1:n.1159-87_1159-84del
ENST00000675729.1:c.1222-87_1222-84del	ENSP00000502319.1:n.1222-87_1222-84del
ENST00000675963.1:c.*920-87_*920-84del	ENSP00000502708.1:n.*920-87_*920-84del
ENST00000676119.1:c.*512-87_*512-84del	ENSP00000501701.1:n.*512-87_*512-84del
ENST00000676300.1:n.1459_1462del
ENST00000260570.7:c.1222-87_1222-84del	ENSP00000260570.3:n.1222-87_1222-84del
ENST00000359466.10:c.1222-87_1222-84del	ENSP00000352443.6:n.1222-87_1222-84del
ENST00000416524.2:c.1159-87_1159-84del	ENSP00000407408.2:n.1159-87_1159-84del
ENST00000476264.6:n.1168-87_1168-84del
ENST00000507184.5:n.1354-87_1354-84del
ENST00000511842.5:n.1247-87_1247-84del
NM_015662.2:c.1222-87_1222-84del	NP_056477.1:n.1222-87_1222-84del
XM_005264254.1:c.1222-87_1222-84del	XP_005264311.1:n.1222-87_1222-84del
XM_006711986.2:c.1159-87_1159-84del	XP_006712049.1:n.1159-87_1159-84del
XM_006711987.1:c.1222-87_1222-84del	XP_006712050.1:n.1222-87_1222-84del
XM_011532757.1:c.541-87_541-84del	XP_011531059.1:n.541-87_541-84del
XM_011532758.1:c.1222-87_1222-84del	XP_011531060.1:n.1222-87_1222-84del
XM_006711986.3:c.1159-87_1159-84del	XP_006712049.1:n.1159-87_1159-84del
XM_011532757.2:c.541-87_541-84del	XP_011531059.1:n.541-87_541-84del
XM_017003790.1:c.1159-87_1159-84del	XP_016859279.1:n.1159-87_1159-84del
XM_017003791.1:c.541-87_541-84del	XP_016859280.1:n.541-87_541-84del
XM_017003792.1:c.1222-87_1222-84del	XP_016859281.1:n.1222-87_1222-84del
XM_017003793.1:c.-229-87_-229-84del	XP_016859282.1:n.-229-87_-229-84del
XM_017003794.1:c.-229-87_-229-84del	XP_016859283.1:n.-229-87_-229-84del
XM_017003795.1:c.-601-87_-601-84del	XP_016859284.1:n.-601-87_-601-84del
XR_001738698.1:n.1277-87_1277-84del
NM_015662.3:c.1222-87_1222-84del MANE Select	NP_056477.1:n.1222-87_1222-84del