Canonical Allele Identifier: CA7280295

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 477648
• ClinVar RCV Id: RCV002526758
• dbSNP Id: rs760903557
• ExAC: 14:76427406 TCTC / T
• gnomAD v2: 14-76427406-TCTC-T
• gnomAD v3: 14-75961063-TCTC-T
• gnomAD v4: 14-75961063-TCTC-T
• MyVariant Identifiers: chr14:g.76427407_76427409del (hg19) ; chr14:g.75961064_75961066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75961068_75961070del , CM000676.2:g.75961068_75961070del	GRCh38
NC_000014.8:g.76427411_76427413del , CM000676.1:g.76427411_76427413del	GRCh37
NC_000014.7:g.75497164_75497166del	NCBI36
NG_011715.1:g.25684_25686del , LRG_399:g.25684_25686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.937_939del (TGFB3) MANE Select	ENSP00000238682.3:p.Glu313del
ENST00000556674.2:c.937_939del (TGFB3)	ENSP00000502685.1:p.Glu313del
ENST00000238682.7:c.937_939del (TGFB3)	ENSP00000238682.3:p.Glu313del
ENST00000554980.5:n.1318_1320del (TGFB3)
ENST00000555677.5:n.90-27817_90-27815del (IFT43)
ENST00000557493.1:n.403_405del (TGFB3)
NM_003239.3:c.937_939del (TGFB3)	NP_003230.1:p.Glu313del
XM_005268028.1:c.937_939del (TGFB3)	XP_005268085.1:p.Glu313del
NM_001329939.1:c.937_939del (TGFB3)	NP_001316868.1:p.Glu313del
NM_003239.4:c.937_939del (TGFB3)	NP_003230.1:p.Glu313del
NM_001329939.2:c.937_939del (TGFB3)	NP_001316868.1:p.Glu313del
NM_003239.5:c.937_939del (TGFB3) MANE Select	NP_003230.1:p.Glu313del