Canonical Allele Identifier: CA2147720771

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963393_75963396delinsAATC , CM000676.2:g.75963393_75963396delinsAATC	GRCh38
NC_000014.8:g.76429736_76429739delinsAATC , CM000676.1:g.76429736_76429739delinsAATC	GRCh37
NC_000014.7:g.75499489_75499492delinsAATC	NCBI36
NG_011715.1:g.23354_23357delinsGATT , LRG_399:g.23354_23357delinsGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.846_849delinsGATT (TGFB3) MANE Select	ENSP00000238682.3:p.Met282=
ENST00000556674.2:c.846_849delinsGATT (TGFB3)	ENSP00000502685.1:p.Met282=
ENST00000238682.7:c.846_849delinsGATT (TGFB3)	ENSP00000238682.3:p.Met282=
ENST00000554980.5:n.1227_1230delinsGATT (TGFB3)
ENST00000555677.5:n.90-25492_90-25489delinsAATC (IFT43)
ENST00000556285.1:c.846_849delinsGATT (TGFB3)	ENSP00000451110.1:p.Met282=
ENST00000557493.1:n.312_315delinsGATT (TGFB3)
NM_003239.3:c.846_849delinsGATT (TGFB3)	NP_003230.1:p.Met282=
XM_005268028.1:c.846_849delinsGATT (TGFB3)	XP_005268085.1:p.Met282=
NM_001329938.1:c.846_849delinsGATT (TGFB3)	NP_001316867.1:p.Met282=
NM_001329939.1:c.846_849delinsGATT (TGFB3)	NP_001316868.1:p.Met282=
NM_003239.4:c.846_849delinsGATT (TGFB3)	NP_003230.1:p.Met282=
NM_001329938.2:c.846_849delinsGATT (TGFB3)	NP_001316867.1:p.Met282=
NM_001329939.2:c.846_849delinsGATT (TGFB3)	NP_001316868.1:p.Met282=
NM_003239.5:c.846_849delinsGATT (TGFB3) MANE Select	NP_003230.1:p.Met282=