Canonical Allele Identifier: CA2147720554

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963259_75963260delinsAG , CM000676.2:g.75963259_75963260delinsAG	GRCh38
NC_000014.8:g.76429602_76429603delinsAG , CM000676.1:g.76429602_76429603delinsAG	GRCh37
NC_000014.7:g.75499355_75499356delinsAG	NCBI36
NG_011715.1:g.23490_23491delinsCT , LRG_399:g.23490_23491delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.926+56_926+57delinsCT (TGFB3) MANE Select	ENSP00000238682.3:n.926+56_926+57delinsCT...
ENST00000556674.2:c.926+56_926+57delinsCT (TGFB3)	ENSP00000502685.1:n.926+56_926+57delinsCT...
ENST00000238682.7:c.926+56_926+57delinsCT (TGFB3)	ENSP00000238682.3:n.926+56_926+57delinsCT...
ENST00000554980.5:n.1307+56_1307+57delinsCT (TGFB3)
ENST00000555677.5:n.90-25626_90-25625delinsAG (IFT43)
ENST00000556285.1:c.*52_*53delinsCT (TGFB3)	ENSP00000451110.1:n.*52_*53delinsCT
ENST00000557493.1:n.392+56_392+57delinsCT (TGFB3)
NM_003239.3:c.926+56_926+57delinsCT (TGFB3)	NP_003230.1:n.926+56_926+57delinsCT
XM_005268028.1:c.926+56_926+57delinsCT (TGFB3)	XP_005268085.1:n.926+56_926+57delinsCT
NM_001329938.1:c.*52_*53delinsCT (TGFB3)	NP_001316867.1:n.*52_*53delinsCT
NM_001329939.1:c.926+56_926+57delinsCT (TGFB3)	NP_001316868.1:n.926+56_926+57delinsCT
NM_003239.4:c.926+56_926+57delinsCT (TGFB3)	NP_003230.1:n.926+56_926+57delinsCT
NM_001329938.2:c.*52_*53delinsCT (TGFB3)	NP_001316867.1:n.*52_*53delinsCT
NM_001329939.2:c.926+56_926+57delinsCT (TGFB3)	NP_001316868.1:n.926+56_926+57delinsCT
NM_003239.5:c.926+56_926+57delinsCT (TGFB3) MANE Select	NP_003230.1:n.926+56_926+57delinsCT