Canonical Allele Identifier: CA615194500

Gene: TGFB3 IFT43

Linked Data

• dbSNP Id: rs1367672323
• gnomAD v2: 14-76429407-CAG-C
• gnomAD v3: 14-75963064-CAG-C
• gnomAD v4: 14-75963064-CAG-C
• MyVariant Identifiers: chr14:g.76429408_76429409del (hg19) ; chr14:g.75963065_75963066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963067_75963068del , CM000676.2:g.75963067_75963068del	GRCh38
NC_000014.8:g.76429410_76429411del , CM000676.1:g.76429410_76429411del	GRCh37
NC_000014.7:g.75499163_75499164del	NCBI36
NG_011715.1:g.23684_23685del , LRG_399:g.23684_23685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.926+250_926+251del (TGFB3) MANE Select	ENSP00000238682.3:n.926+250_926+251del
ENST00000556674.2:c.926+250_926+251del (TGFB3)	ENSP00000502685.1:n.926+250_926+251del
ENST00000238682.7:c.926+250_926+251del (TGFB3)	ENSP00000238682.3:n.926+250_926+251del
ENST00000554980.5:n.1307+250_1307+251del (TGFB3)
ENST00000555677.5:n.90-25818_90-25817del (IFT43)
ENST00000556285.1:c.*246_*247del (TGFB3)	ENSP00000451110.1:n.*246_*247del
ENST00000557493.1:n.392+250_392+251del (TGFB3)
NM_003239.3:c.926+250_926+251del (TGFB3)	NP_003230.1:n.926+250_926+251del
XM_005268028.1:c.926+250_926+251del (TGFB3)	XP_005268085.1:n.926+250_926+251del
NM_001329938.1:c.*246_*247del (TGFB3)	NP_001316867.1:n.*246_*247del
NM_001329939.1:c.926+250_926+251del (TGFB3)	NP_001316868.1:n.926+250_926+251del
NM_003239.4:c.926+250_926+251del (TGFB3)	NP_003230.1:n.926+250_926+251del
NM_001329938.2:c.*246_*247del (TGFB3)	NP_001316867.1:n.*246_*247del
NM_001329939.2:c.926+250_926+251del (TGFB3)	NP_001316868.1:n.926+250_926+251del
NM_003239.5:c.926+250_926+251del (TGFB3) MANE Select	NP_003230.1:n.926+250_926+251del