Canonical Allele Identifier: CA2625771088

Gene: TGFB3 IFT43

Linked Data

• gnomAD v4: 14-75962930-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75962931_75962932del , CM000676.2:g.75962931_75962932del	GRCh38
NC_000014.8:g.76429274_76429275del , CM000676.1:g.76429274_76429275del	GRCh37
NC_000014.7:g.75499027_75499028del	NCBI36
NG_011715.1:g.23818_23819del , LRG_399:g.23818_23819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.926+384_926+385del (TGFB3) MANE Select	ENSP00000238682.3:n.926+384_926+385del
ENST00000556674.2:c.926+384_926+385del (TGFB3)	ENSP00000502685.1:n.926+384_926+385del
ENST00000238682.7:c.926+384_926+385del (TGFB3)	ENSP00000238682.3:n.926+384_926+385del
ENST00000554980.5:n.1307+384_1307+385del (TGFB3)
ENST00000555677.5:n.90-25954_90-25953del (IFT43)
ENST00000557493.1:n.392+384_392+385del (TGFB3)
NM_003239.3:c.926+384_926+385del (TGFB3)	NP_003230.1:n.926+384_926+385del
XM_005268028.1:c.926+384_926+385del (TGFB3)	XP_005268085.1:n.926+384_926+385del
NM_001329939.1:c.926+384_926+385del (TGFB3)	NP_001316868.1:n.926+384_926+385del
NM_003239.4:c.926+384_926+385del (TGFB3)	NP_003230.1:n.926+384_926+385del
NM_001329939.2:c.926+384_926+385del (TGFB3)	NP_001316868.1:n.926+384_926+385del
NM_003239.5:c.926+384_926+385del (TGFB3) MANE Select	NP_003230.1:n.926+384_926+385del