Canonical Allele Identifier: CA2147718386

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75960661_75960662delinsGT , CM000676.2:g.75960661_75960662delinsGT	GRCh38
NC_000014.8:g.76427004_76427005delinsGT , CM000676.1:g.76427004_76427005delinsGT	GRCh37
NC_000014.7:g.75496757_75496758delinsGT	NCBI36
NG_011715.1:g.26088_26089delinsAC , LRG_399:g.26088_26089delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1080+261_1080+262delinsAC (TGFB3) MANE Select	ENSP00000238682.3:n.1080+261_1080+262delinsAC
ENST00000556674.2:c.1080+261_1080+262delinsAC (TGFB3)	ENSP00000502685.1:n.1080+261_1080+262delinsAC
ENST00000238682.7:c.1080+261_1080+262delinsAC (TGFB3)	ENSP00000238682.3:n.1080+261_1080+262delinsAC
ENST00000554980.5:n.1461+261_1461+262delinsAC (TGFB3)
ENST00000555677.5:n.90-28224_90-28223delinsGT (IFT43)
ENST00000556507.1:n.35+261_35+262delinsAC (TGFB3)
NM_003239.3:c.1080+261_1080+262delinsAC (TGFB3)	NP_003230.1:n.1080+261_1080+262delinsAC
XM_005268028.1:c.1080+261_1080+262delinsAC (TGFB3)	XP_005268085.1:n.1080+261_1080+262delinsAC
NM_001329939.1:c.1080+261_1080+262delinsAC (TGFB3)	NP_001316868.1:n.1080+261_1080+262delinsAC
NM_003239.4:c.1080+261_1080+262delinsAC (TGFB3)	NP_003230.1:n.1080+261_1080+262delinsAC
NM_001329939.2:c.1080+261_1080+262delinsAC (TGFB3)	NP_001316868.1:n.1080+261_1080+262delinsAC
NM_003239.5:c.1080+261_1080+262delinsAC (TGFB3) MANE Select	NP_003230.1:n.1080+261_1080+262delinsAC