Canonical Allele Identifier: CA263704257

Gene: TGFB3 IFT43

Linked Data

• dbSNP Id: rs879082133

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75965598_75965643delinsT , CM000676.2:g.75965598_75965643delinsT	GRCh38
NC_000014.8:g.76431941_76431986delinsT , CM000676.1:g.76431941_76431986delinsT	GRCh37
NC_000014.7:g.75501694_75501739delinsT	NCBI36
NG_011715.1:g.21107_21152delinsA , LRG_399:g.21107_21152delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.699_744delinsA (TGFB3) MANE Select	ENSP00000238682.3:p.Pro234_Ile248del
ENST00000556674.2:c.699_744delinsA (TGFB3)	ENSP00000502685.1:p.Pro234_Ile248del
ENST00000238682.7:c.699_744delinsA (TGFB3)	ENSP00000238682.3:p.Pro234_Ile248del
ENST00000554980.5:n.1080_1125delinsA (TGFB3)
ENST00000555677.5:n.90-23287_90-23242delinsT (IFT43)
ENST00000556285.1:c.699_744delinsA (TGFB3)	ENSP00000451110.1:p.Pro234_Ile248del
ENST00000557493.1:n.165_210delinsA (TGFB3)
NM_003239.3:c.699_744delinsA (TGFB3)	NP_003230.1:p.Pro234_Ile248del
XM_005268028.1:c.699_744delinsA (TGFB3)	XP_005268085.1:p.Pro234_Ile248del
NM_001329938.1:c.699_744delinsA (TGFB3)	NP_001316867.1:p.Pro234_Ile248del
NM_001329939.1:c.699_744delinsA (TGFB3)	NP_001316868.1:p.Pro234_Ile248del
NM_003239.4:c.699_744delinsA (TGFB3)	NP_003230.1:p.Pro234_Ile248del
NM_001329938.2:c.699_744delinsA (TGFB3)	NP_001316867.1:p.Pro234_Ile248del
NM_001329939.2:c.699_744delinsA (TGFB3)	NP_001316868.1:p.Pro234_Ile248del
NM_003239.5:c.699_744delinsA (TGFB3) MANE Select	NP_003230.1:p.Pro234_Ile248del