Canonical Allele Identifier: CA1580574

Gene: IFT172

Linked Data

• dbSNP Id: rs587777083
• ExAC: 2:27693814 ACT / A
• gnomAD v2: 2-27693814-ACT-A
• gnomAD v3: 2-27470947-ACT-A
• gnomAD v4: 2-27470947-ACT-A
• MyVariant Identifiers: chr2:g.27693815_27693816del (hg19) ; chr2:g.27470948_27470949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27470953_27470954del , CM000664.2:g.27470953_27470954del	GRCh38
NC_000002.11:g.27693820_27693821del , CM000664.1:g.27693820_27693821del	GRCh37
NC_000002.10:g.27547324_27547325del	NCBI36
NG_034068.1:g.23863_23864del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1671_1672del MANE Select	ENSP00000260570.3:p.Arg557SerfsTer7
ENST00000674701.1:c.*1089_*1090del	ENSP00000502275.1:n.*1089_*1090del
ENST00000674824.1:c.1542_1543del	ENSP00000501824.1:p.Arg514SerfsTer7
ENST00000674932.1:c.*1268_*1269del	ENSP00000501967.1:n.*1268_*1269del
ENST00000675410.1:c.990_991del	ENSP00000502030.1:p.Arg330SerfsTer7
ENST00000675618.1:n.2241_2242del
ENST00000675690.1:c.1605_1606del	ENSP00000502283.1:p.Arg535SerfsTer7
ENST00000675729.1:c.*1234_*1235del	ENSP00000502319.1:n.*1234_*1235del
ENST00000675826.1:n.1277_1278del
ENST00000675963.1:c.*1303_*1304del	ENSP00000502708.1:n.*1303_*1304del
ENST00000676101.1:n.831_832del
ENST00000676119.1:c.*961_*962del	ENSP00000501701.1:n.*961_*962del
ENST00000260570.7:c.1671_1672del	ENSP00000260570.3:p.Arg557SerfsTer7
ENST00000463613.1:n.192_193del
ENST00000507184.5:n.1803_1804del
ENST00000511842.5:n.1696_1697del
NM_015662.2:c.1671_1672del	NP_056477.1:p.Arg557SerfsTer7
XM_005264254.1:c.1605_1606del	XP_005264311.1:p.Arg535SerfsTer7
XM_006711986.2:c.1608_1609del	XP_006712049.1:p.Arg536SerfsTer7
XM_006711987.1:c.1671_1672del	XP_006712050.1:p.Arg557SerfsTer7
XM_011532757.1:c.990_991del	XP_011531059.1:p.Arg330SerfsTer7
XM_011532758.1:c.1671_1672del	XP_011531060.1:p.Arg557SerfsTer7
XM_011532759.1:c.111_112del	XP_011531061.1:p.Arg37SerfsTer7
XM_006711986.3:c.1608_1609del	XP_006712049.1:p.Arg536SerfsTer7
XM_011532757.2:c.990_991del	XP_011531059.1:p.Arg330SerfsTer7
XM_011532759.2:c.111_112del	XP_011531061.1:p.Arg37SerfsTer7
XM_017003790.1:c.1542_1543del	XP_016859279.1:p.Arg514SerfsTer7
XM_017003791.1:c.990_991del	XP_016859280.1:p.Arg330SerfsTer7
XM_017003792.1:c.1671_1672del	XP_016859281.1:p.Arg557SerfsTer7
XM_017003793.1:c.74+1301_74+1302del	XP_016859282.1:n.74+1301_74+1302del
XM_017003794.1:c.74+1301_74+1302del	XP_016859283.1:n.74+1301_74+1302del
XM_017003795.1:c.-152_-151del	XP_016859284.1:n.-152_-151del
XR_001738698.1:n.1726_1727del
NM_015662.3:c.1671_1672del MANE Select	NP_056477.1:p.Arg557SerfsTer7