Canonical Allele Identifier: CA2697554063

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 2695962
• ClinVar RCV Id: RCV003583252

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963290_75963301del , CM000676.2:g.75963290_75963301del	GRCh38
NC_000014.8:g.76429633_76429644del , CM000676.1:g.76429633_76429644del	GRCh37
NC_000014.7:g.75499386_75499397del	NCBI36
NG_011715.1:g.23453_23464del , LRG_399:g.23453_23464del

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.926+19_926+30del (TGFB3) MANE Select	ENSP00000238682.3:n.926+19_926+30del
ENST00000556674.2:c.926+19_926+30del (TGFB3)	ENSP00000502685.1:n.926+19_926+30del
ENST00000238682.7:c.926+19_926+30del (TGFB3)	ENSP00000238682.3:n.926+19_926+30del
ENST00000554980.5:n.1307+19_1307+30del (TGFB3)
ENST00000555677.5:n.90-25595_90-25584del (IFT43)
ENST00000556285.1:c.*15_*26del (TGFB3)	ENSP00000451110.1:n.*15_*26del
ENST00000557493.1:n.392+19_392+30del (TGFB3)
NM_003239.3:c.926+19_926+30del (TGFB3)	NP_003230.1:n.926+19_926+30del
XM_005268028.1:c.926+19_926+30del (TGFB3)	XP_005268085.1:n.926+19_926+30del
NM_001329938.1:c.*15_*26del (TGFB3)	NP_001316867.1:n.*15_*26del
NM_001329939.1:c.926+19_926+30del (TGFB3)	NP_001316868.1:n.926+19_926+30del
NM_003239.4:c.926+19_926+30del (TGFB3)	NP_003230.1:n.926+19_926+30del
NM_001329938.2:c.*15_*26del (TGFB3)	NP_001316867.1:n.*15_*26del
NM_001329939.2:c.926+19_926+30del (TGFB3)	NP_001316868.1:n.926+19_926+30del
NM_003239.5:c.926+19_926+30del (TGFB3) MANE Select	NP_003230.1:n.926+19_926+30del