Canonical Allele Identifier: CA2147718359

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960642_75960644delinsCAT , CM000676.2:g.75960642_75960644delinsCAT	GRCh38
NC_000014.8:g.76426985_76426987delinsCAT , CM000676.1:g.76426985_76426987delinsCAT	GRCh37
NC_000014.7:g.75496738_75496740delinsCAT	NCBI36
NG_011715.1:g.26106_26108delinsATG , LRG_399:g.26106_26108delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1080+279_1080+281delinsATG (TGFB3) MANE Select	ENSP00000238682.3:n.1080+279_1080+281delinsATG
ENST00000556674.2:c.1080+279_1080+281delinsATG (TGFB3)	ENSP00000502685.1:n.1080+279_1080+281delinsATG
ENST00000238682.7:c.1080+279_1080+281delinsATG (TGFB3)	ENSP00000238682.3:n.1080+279_1080+281delinsATG
ENST00000554980.5:n.1461+279_1461+281delinsATG (TGFB3)
ENST00000555677.5:n.90-28243_90-28241delinsCAT (IFT43)
ENST00000556507.1:n.36-258_36-256delinsATG (TGFB3)
NM_003239.3:c.1080+279_1080+281delinsATG (TGFB3)	NP_003230.1:n.1080+279_1080+281delinsATG
XM_005268028.1:c.1080+279_1080+281delinsATG (TGFB3)	XP_005268085.1:n.1080+279_1080+281delinsATG
NM_001329939.1:c.1080+279_1080+281delinsATG (TGFB3)	NP_001316868.1:n.1080+279_1080+281delinsATG
NM_003239.4:c.1080+279_1080+281delinsATG (TGFB3)	NP_003230.1:n.1080+279_1080+281delinsATG
NM_001329939.2:c.1080+279_1080+281delinsATG (TGFB3)	NP_001316868.1:n.1080+279_1080+281delinsATG
NM_003239.5:c.1080+279_1080+281delinsATG (TGFB3) MANE Select	NP_003230.1:n.1080+279_1080+281delinsATG