Canonical Allele Identifier: CA1580199

Gene: IFT172

Linked Data

• ClinVar Variation Id: 446697
• ClinVar RCV Id: RCV000515844 ; RCV000810508 ; RCV002476034 ; RCV003128621 ; RCV003979920
• dbSNP Id: rs750338419
• ExAC: 2:27682266 A / AT
• gnomAD v2: 2-27682266-A-AT
• gnomAD v4: 2-27459399-A-AT
• MyVariant Identifiers: chr2:g.27682267dup (hg19) ; chr2:g.27682266_27682267insT (hg19) ; chr2:g.27459400dup (hg38) ; chr2:g.27459399_27459400insT (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27459400dup , CM000664.2:g.27459400dup	GRCh38
NC_000002.11:g.27682267dup , CM000664.1:g.27682267dup	GRCh37
NC_000002.10:g.27535771dup	NCBI36
NG_034068.1:g.35412dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.2765dup MANE Select	ENSP00000260570.3:p.Tyr922Ter
ENST00000674701.1:c.*1938dup	ENSP00000502275.1:n.*1938dup
ENST00000674824.1:c.*780dup	ENSP00000501824.1:n.*780dup
ENST00000674932.1:c.*2362dup	ENSP00000501967.1:n.*2362dup
ENST00000675410.1:c.2084dup	ENSP00000502030.1:p.Tyr695Ter
ENST00000675690.1:c.2699dup	ENSP00000502283.1:p.Tyr900Ter
ENST00000676119.1:c.*2055dup	ENSP00000501701.1:n.*2055dup
ENST00000260570.7:c.2765dup	ENSP00000260570.3:p.Tyr922Ter
ENST00000507184.5:n.2897dup
NM_015662.2:c.2765dup	NP_056477.1:p.Tyr922Ter
XM_005264254.1:c.2699dup	XP_005264311.1:p.Tyr900Ter
XM_006711986.2:c.2702dup	XP_006712049.1:p.Tyr901Ter
XM_006711987.1:c.2765dup	XP_006712050.1:p.Tyr922Ter
XM_011532757.1:c.2084dup	XP_011531059.1:p.Tyr695Ter
XM_011532758.1:c.2765dup	XP_011531060.1:p.Tyr922Ter
XM_011532759.1:c.1205dup	XP_011531061.1:p.Tyr402Ter
XM_011532760.1:c.830dup	XP_011531062.1:p.Tyr277Ter
XM_006711986.3:c.2702dup	XP_006712049.1:p.Tyr901Ter
XM_011532757.2:c.2084dup	XP_011531059.1:p.Tyr695Ter
XM_011532759.2:c.1205dup	XP_011531061.1:p.Tyr402Ter
XM_011532760.2:c.830dup	XP_011531062.1:p.Tyr277Ter
XM_017003790.1:c.2636dup	XP_016859279.1:p.Tyr879Ter
XM_017003791.1:c.2084dup	XP_016859280.1:p.Tyr695Ter
XM_017003792.1:c.2765dup	XP_016859281.1:p.Tyr922Ter
XM_017003793.1:c.902dup	XP_016859282.1:p.Tyr301Ter
XM_017003794.1:c.902dup	XP_016859283.1:p.Tyr301Ter
XM_017003795.1:c.698dup	XP_016859284.1:p.Tyr233Ter
XR_001738698.1:n.2820dup
NM_015662.3:c.2765dup MANE Select	NP_056477.1:p.Tyr922Ter