Canonical Allele Identifier: CA2730180490

Gene: TGFB3 IFT43

Linked Data

• dbSNP Id: rs2140238242

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75963422_75963429del , CM000676.2:g.75963422_75963429del	GRCh38
NC_000014.8:g.76429765_76429772del , CM000676.1:g.76429765_76429772del	GRCh37
NC_000014.7:g.75499518_75499525del	NCBI36
NG_011715.1:g.23321_23328del , LRG_399:g.23321_23328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.813_820del (TGFB3) MANE Select	ENSP00000238682.3:p.Asp272GlnfsTer?
ENST00000556674.2:c.813_820del (TGFB3)	ENSP00000502685.1:p.Asp272GlnfsTer?
ENST00000238682.7:c.813_820del (TGFB3)	ENSP00000238682.3:p.Asp272GlnfsTer?
ENST00000554980.5:n.1194_1201del (TGFB3)
ENST00000555677.5:n.90-25463_90-25456del (IFT43)
ENST00000556285.1:c.813_820del (TGFB3)	ENSP00000451110.1:p.Asp272GlnfsTer?
ENST00000557493.1:n.279_286del (TGFB3)
NM_003239.3:c.813_820del (TGFB3)	NP_003230.1:p.Asp272GlnfsTer?
XM_005268028.1:c.813_820del (TGFB3)	XP_005268085.1:p.Asp272GlnfsTer?
NM_001329938.1:c.813_820del (TGFB3)	NP_001316867.1:p.Asp272GlnfsTer?
NM_001329939.1:c.813_820del (TGFB3)	NP_001316868.1:p.Asp272GlnfsTer?
NM_003239.4:c.813_820del (TGFB3)	NP_003230.1:p.Asp272GlnfsTer?
NM_001329938.2:c.813_820del (TGFB3)	NP_001316867.1:p.Asp272GlnfsTer?
NM_001329939.2:c.813_820del (TGFB3)	NP_001316868.1:p.Asp272GlnfsTer?
NM_003239.5:c.813_820del (TGFB3) MANE Select	NP_003230.1:p.Asp272GlnfsTer?