Canonical Allele Identifier: CA658798230

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 520206
• ClinVar RCV Id: RCV002315247 ; RCV002499009 ; RCV002531853
• dbSNP Id: rs1555360047
• MyVariant Identifiers: chr14:g.76425664_76425667del (hg19) ; chr14:g.75959321_75959324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75959321_75959324del , CM000676.2:g.75959321_75959324del	GRCh38
NC_000014.8:g.76425664_76425667del , CM000676.1:g.76425664_76425667del	GRCh37
NC_000014.7:g.75495417_75495420del	NCBI36
NG_011715.1:g.27426_27429del , LRG_399:g.27426_27429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.1102_1105del (TGFB3) MANE Select	ENSP00000238682.3:p.Leu368ThrfsTer18
ENST00000556674.2:c.1102_1105del (TGFB3)	ENSP00000502685.1:p.Leu368ThrfsTer18
ENST00000238682.7:c.1102_1105del (TGFB3)	ENSP00000238682.3:p.Leu368ThrfsTer18
ENST00000554980.5:n.1483_1486del (TGFB3)
ENST00000555677.5:n.90-29564_90-29561del (IFT43)
ENST00000556507.1:n.175_178del (TGFB3)
NM_003239.3:c.1102_1105del (TGFB3)	NP_003230.1:p.Leu368ThrfsTer18
XM_005268028.1:c.1102_1105del (TGFB3)	XP_005268085.1:p.Leu368ThrfsTer18
NM_001329939.1:c.1102_1105del (TGFB3)	NP_001316868.1:p.Leu368ThrfsTer18
NM_003239.4:c.1102_1105del (TGFB3)	NP_003230.1:p.Leu368ThrfsTer18
NM_001329939.2:c.1102_1105del (TGFB3)	NP_001316868.1:p.Leu368ThrfsTer18
NM_003239.5:c.1102_1105del (TGFB3) MANE Select	NP_003230.1:p.Leu368ThrfsTer18