Canonical Allele Identifier: CA2147718614

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960938_75960940delinsGTC , CM000676.2:g.75960938_75960940delinsGTC	GRCh38
NC_000014.8:g.76427281_76427283delinsGTC , CM000676.1:g.76427281_76427283delinsGTC	GRCh37
NC_000014.7:g.75497034_75497036delinsGTC	NCBI36
NG_011715.1:g.25810_25812delinsGAC , LRG_399:g.25810_25812delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.1063_1065delinsGAC (TGFB3) MANE Select	ENSP00000238682.3:p.Asp355=
ENST00000556674.2:c.1063_1065delinsGAC (TGFB3)	ENSP00000502685.1:p.Asp355=
ENST00000238682.7:c.1063_1065delinsGAC (TGFB3)	ENSP00000238682.3:p.Asp355=
ENST00000554980.5:n.1444_1446delinsGAC (TGFB3)
ENST00000555677.5:n.90-27947_90-27945delinsGTC (IFT43)
ENST00000556507.1:n.18_20delinsGAC (TGFB3)
ENST00000557493.1:n.529_531delinsGAC (TGFB3)
NM_003239.3:c.1063_1065delinsGAC (TGFB3)	NP_003230.1:p.Asp355=
XM_005268028.1:c.1063_1065delinsGAC (TGFB3)	XP_005268085.1:p.Asp355=
NM_001329939.1:c.1063_1065delinsGAC (TGFB3)	NP_001316868.1:p.Asp355=
NM_003239.4:c.1063_1065delinsGAC (TGFB3)	NP_003230.1:p.Asp355=
NM_001329939.2:c.1063_1065delinsGAC (TGFB3)	NP_001316868.1:p.Asp355=
NM_003239.5:c.1063_1065delinsGAC (TGFB3) MANE Select	NP_003230.1:p.Asp355=