Canonical Allele Identifier: CA2147722487

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75965493_75965494delinsCT , CM000676.2:g.75965493_75965494delinsCT	GRCh38
NC_000014.8:g.76431836_76431837delinsCT , CM000676.1:g.76431836_76431837delinsCT	GRCh37
NC_000014.7:g.75501589_75501590delinsCT	NCBI36
NG_011715.1:g.21256_21257delinsAG , LRG_399:g.21256_21257delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.754+94_754+95delinsAG (TGFB3) MANE Select	ENSP00000238682.3:n.754+94_754+95delinsAG...
ENST00000556674.2:c.754+94_754+95delinsAG (TGFB3)	ENSP00000502685.1:n.754+94_754+95delinsAG...
ENST00000238682.7:c.754+94_754+95delinsAG (TGFB3)	ENSP00000238682.3:n.754+94_754+95delinsAG...
ENST00000554980.5:n.1135+94_1135+95delinsAG (TGFB3)
ENST00000555677.5:n.90-23392_90-23391delinsCT (IFT43)
ENST00000556285.1:c.754+94_754+95delinsAG (TGFB3)	ENSP00000451110.1:n.754+94_754+95delinsAG...
ENST00000557493.1:n.220+94_220+95delinsAG (TGFB3)
NM_003239.3:c.754+94_754+95delinsAG (TGFB3)	NP_003230.1:n.754+94_754+95delinsAG
XM_005268028.1:c.754+94_754+95delinsAG (TGFB3)	XP_005268085.1:n.754+94_754+95delinsAG
NM_001329938.1:c.754+94_754+95delinsAG (TGFB3)	NP_001316867.1:n.754+94_754+95delinsAG
NM_001329939.1:c.754+94_754+95delinsAG (TGFB3)	NP_001316868.1:n.754+94_754+95delinsAG
NM_003239.4:c.754+94_754+95delinsAG (TGFB3)	NP_003230.1:n.754+94_754+95delinsAG
NM_001329938.2:c.754+94_754+95delinsAG (TGFB3)	NP_001316867.1:n.754+94_754+95delinsAG
NM_001329939.2:c.754+94_754+95delinsAG (TGFB3)	NP_001316868.1:n.754+94_754+95delinsAG
NM_003239.5:c.754+94_754+95delinsAG (TGFB3) MANE Select	NP_003230.1:n.754+94_754+95delinsAG