Canonical Allele Identifier: CA645583192

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 2692487
• ClinVar RCV Id: RCV003583231 ; RCV004017991
• gnomAD v4: 14-75963357-AC-A
• COSMIC: COSM4733362

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963363del , CM000676.2:g.75963363del	GRCh38
NC_000014.8:g.76429706del , CM000676.1:g.76429706del	GRCh37
NC_000014.7:g.75499459del	NCBI36
NG_011715.1:g.23392del , LRG_399:g.23392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.884del (TGFB3) MANE Select	ENSP00000238682.3:p.Gly295ValfsTer?
ENST00000556674.2:c.884del (TGFB3)	ENSP00000502685.1:p.Gly295ValfsTer?
ENST00000238682.7:c.884del (TGFB3)	ENSP00000238682.3:p.Gly295ValfsTer?
ENST00000554980.5:n.1265del (TGFB3)
ENST00000555677.5:n.90-25522del (IFT43)
ENST00000556285.1:c.884del (TGFB3)	ENSP00000451110.1:p.Gly295ValfsTer?
ENST00000557493.1:n.350del (TGFB3)
NM_003239.3:c.884del (TGFB3)	NP_003230.1:p.Gly295ValfsTer?
XM_005268028.1:c.884del (TGFB3)	XP_005268085.1:p.Gly295ValfsTer?
NM_001329938.1:c.884del (TGFB3)	NP_001316867.1:p.Gly295ValfsTer?
NM_001329939.1:c.884del (TGFB3)	NP_001316868.1:p.Gly295ValfsTer?
NM_003239.4:c.884del (TGFB3)	NP_003230.1:p.Gly295ValfsTer?
NM_001329938.2:c.884del (TGFB3)	NP_001316867.1:p.Gly295ValfsTer?
NM_001329939.2:c.884del (TGFB3)	NP_001316868.1:p.Gly295ValfsTer?
NM_003239.5:c.884del (TGFB3) MANE Select	NP_003230.1:p.Gly295ValfsTer?