Canonical Allele Identifier: CA708618801

Gene: TGFB3 IFT43

Linked Data

• dbSNP Id: rs1473245307
• gnomAD v3: 14-75965415-TAC-T
• gnomAD v4: 14-75965415-TAC-T
• MyVariant Identifiers: chr14:g.76431759_76431760del (hg19) ; chr14:g.75965416_75965417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75965418_75965419del , CM000676.2:g.75965418_75965419del	GRCh38
NC_000014.8:g.76431761_76431762del , CM000676.1:g.76431761_76431762del	GRCh37
NC_000014.7:g.75501514_75501515del	NCBI36
NG_011715.1:g.21333_21334del , LRG_399:g.21333_21334del

Transcript Alleles

HGVS	Amino-acid change
ENST00000238682.8:c.754+171_754+172del (TGFB3) MANE Select	ENSP00000238682.3:n.754+171_754+172del
ENST00000556674.2:c.754+171_754+172del (TGFB3)	ENSP00000502685.1:n.754+171_754+172del
ENST00000238682.7:c.754+171_754+172del (TGFB3)	ENSP00000238682.3:n.754+171_754+172del
ENST00000554980.5:n.1135+171_1135+172del (TGFB3)
ENST00000555677.5:n.90-23467_90-23466del (IFT43)
ENST00000556285.1:c.754+171_754+172del (TGFB3)	ENSP00000451110.1:n.754+171_754+172del
ENST00000557493.1:n.220+171_220+172del (TGFB3)
NM_003239.3:c.754+171_754+172del (TGFB3)	NP_003230.1:n.754+171_754+172del
XM_005268028.1:c.754+171_754+172del (TGFB3)	XP_005268085.1:n.754+171_754+172del
NM_001329938.1:c.754+171_754+172del (TGFB3)	NP_001316867.1:n.754+171_754+172del
NM_001329939.1:c.754+171_754+172del (TGFB3)	NP_001316868.1:n.754+171_754+172del
NM_003239.4:c.754+171_754+172del (TGFB3)	NP_003230.1:n.754+171_754+172del
NM_001329938.2:c.754+171_754+172del (TGFB3)	NP_001316867.1:n.754+171_754+172del
NM_001329939.2:c.754+171_754+172del (TGFB3)	NP_001316868.1:n.754+171_754+172del
NM_003239.5:c.754+171_754+172del (TGFB3) MANE Select	NP_003230.1:n.754+171_754+172del