Canonical Allele Identifier: CA7280307

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 1141715
• ClinVar RCV Id: RCV002562657
• dbSNP Id: rs1491398509
• ExAC: 14:76429649 CCA / C
• gnomAD v2: 14-76429649-CCA-C
• gnomAD v4: 14-75963306-CCA-C
• MyVariant Identifiers: chr14:g.76429650_76429651del (hg19) ; chr14:g.75963307_75963308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963307_75963308del , CM000676.2:g.75963307_75963308del	GRCh38
NC_000014.8:g.76429650_76429651del , CM000676.1:g.76429650_76429651del	GRCh37
NC_000014.7:g.75499403_75499404del	NCBI36
NG_011715.1:g.23442_23443del , LRG_399:g.23442_23443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.926+8_926+9del (TGFB3) MANE Select	ENSP00000238682.3:n.926+8_926+9del
ENST00000556674.2:c.926+8_926+9del (TGFB3)	ENSP00000502685.1:n.926+8_926+9del
ENST00000238682.7:c.926+8_926+9del (TGFB3)	ENSP00000238682.3:n.926+8_926+9del
ENST00000554980.5:n.1307+8_1307+9del (TGFB3)
ENST00000555677.5:n.90-25578_90-25577del (IFT43)
ENST00000556285.1:c.*4_*5del (TGFB3)	ENSP00000451110.1:n.*4_*5del
ENST00000557493.1:n.392+8_392+9del (TGFB3)
NM_003239.3:c.926+8_926+9del (TGFB3)	NP_003230.1:n.926+8_926+9del
XM_005268028.1:c.926+8_926+9del (TGFB3)	XP_005268085.1:n.926+8_926+9del
NM_001329938.1:c.*4_*5del (TGFB3)	NP_001316867.1:n.*4_*5del
NM_001329939.1:c.926+8_926+9del (TGFB3)	NP_001316868.1:n.926+8_926+9del
NM_003239.4:c.926+8_926+9del (TGFB3)	NP_003230.1:n.926+8_926+9del
NM_001329938.2:c.*4_*5del (TGFB3)	NP_001316867.1:n.*4_*5del
NM_001329939.2:c.926+8_926+9del (TGFB3)	NP_001316868.1:n.926+8_926+9del
NM_003239.5:c.926+8_926+9del (TGFB3) MANE Select	NP_003230.1:n.926+8_926+9del