Canonical Allele Identifier: CA2802202119

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963283_75963285del , CM000676.2:g.75963283_75963285del	GRCh38
NC_000014.8:g.76429626_76429628del , CM000676.1:g.76429626_76429628del	GRCh37
NC_000014.7:g.75499379_75499381del	NCBI36
NG_011715.1:g.23467_23469del , LRG_399:g.23467_23469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.926+33_926+35del (TGFB3) MANE Select	ENSP00000238682.3:n.926+33_926+35del
ENST00000556674.2:c.926+33_926+35del (TGFB3)	ENSP00000502685.1:n.926+33_926+35del
ENST00000238682.7:c.926+33_926+35del (TGFB3)	ENSP00000238682.3:n.926+33_926+35del
ENST00000554980.5:n.1307+33_1307+35del (TGFB3)
ENST00000555677.5:n.90-25602_90-25600del (IFT43)
ENST00000556285.1:c.*29_*31del (TGFB3)	ENSP00000451110.1:n.*29_*31del
ENST00000557493.1:n.392+33_392+35del (TGFB3)
NM_003239.3:c.926+33_926+35del (TGFB3)	NP_003230.1:n.926+33_926+35del
XM_005268028.1:c.926+33_926+35del (TGFB3)	XP_005268085.1:n.926+33_926+35del
NM_001329938.1:c.*29_*31del (TGFB3)	NP_001316867.1:n.*29_*31del
NM_001329939.1:c.926+33_926+35del (TGFB3)	NP_001316868.1:n.926+33_926+35del
NM_003239.4:c.926+33_926+35del (TGFB3)	NP_003230.1:n.926+33_926+35del
NM_001329938.2:c.*29_*31del (TGFB3)	NP_001316867.1:n.*29_*31del
NM_001329939.2:c.926+33_926+35del (TGFB3)	NP_001316868.1:n.926+33_926+35del
NM_003239.5:c.926+33_926+35del (TGFB3) MANE Select	NP_003230.1:n.926+33_926+35del