Canonical Allele Identifier: CA2147720439

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963140_75963144delinsCAGAA , CM000676.2:g.75963140_75963144delinsCAGAA	GRCh38
NC_000014.8:g.76429483_76429487delinsCAGAA , CM000676.1:g.76429483_76429487delinsCAGAA	GRCh37
NC_000014.7:g.75499236_75499240delinsCAGAA	NCBI36
NG_011715.1:g.23606_23610delinsTTCTG , LRG_399:g.23606_23610delinsTTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.926+172_926+176delinsTTCTG (TGFB3) MANE Select	ENSP00000238682.3:n.926+172_926+176delinsTTCTG
ENST00000556674.2:c.926+172_926+176delinsTTCTG (TGFB3)	ENSP00000502685.1:n.926+172_926+176delinsTTCTG
ENST00000238682.7:c.926+172_926+176delinsTTCTG (TGFB3)	ENSP00000238682.3:n.926+172_926+176delinsTTCTG
ENST00000554980.5:n.1307+172_1307+176delinsTTCTG (TGFB3)
ENST00000555677.5:n.90-25745_90-25741delinsCAGAA (IFT43)
ENST00000556285.1:c.*168_*172delinsTTCTG (TGFB3)	ENSP00000451110.1:n.*168_*172delinsTTCTG
ENST00000557493.1:n.392+172_392+176delinsTTCTG (TGFB3)
NM_003239.3:c.926+172_926+176delinsTTCTG (TGFB3)	NP_003230.1:n.926+172_926+176delinsTTCTG
XM_005268028.1:c.926+172_926+176delinsTTCTG (TGFB3)	XP_005268085.1:n.926+172_926+176delinsTTCTG
NM_001329938.1:c.*168_*172delinsTTCTG (TGFB3)	NP_001316867.1:n.*168_*172delinsTTCTG
NM_001329939.1:c.926+172_926+176delinsTTCTG (TGFB3)	NP_001316868.1:n.926+172_926+176delinsTTCTG
NM_003239.4:c.926+172_926+176delinsTTCTG (TGFB3)	NP_003230.1:n.926+172_926+176delinsTTCTG
NM_001329938.2:c.*168_*172delinsTTCTG (TGFB3)	NP_001316867.1:n.*168_*172delinsTTCTG
NM_001329939.2:c.926+172_926+176delinsTTCTG (TGFB3)	NP_001316868.1:n.926+172_926+176delinsTTCTG
NM_003239.5:c.926+172_926+176delinsTTCTG (TGFB3) MANE Select	NP_003230.1:n.926+172_926+176delinsTTCTG