Canonical Allele Identifier: CA2802202077

Gene: TGFB3 IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75961116_75961117insAACACAC , CM000676.2:g.75961116_75961117insAACACAC	GRCh38
NC_000014.8:g.76427459_76427460insAACACAC , CM000676.1:g.76427459_76427460insAACACAC	GRCh37
NC_000014.7:g.75497212_75497213insAACACAC	NCBI36
NG_011715.1:g.25633_25634insGTGTGTT , LRG_399:g.25633_25634insGTGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.927-41_927-40insGTGTGTT (TGFB3) MANE Select	ENSP00000238682.3:n.927-41_927-40insGTGTGTT
ENST00000556674.2:c.927-41_927-40insGTGTGTT (TGFB3)	ENSP00000502685.1:n.927-41_927-40insGTGTGTT
ENST00000238682.7:c.927-41_927-40insGTGTGTT (TGFB3)	ENSP00000238682.3:n.927-41_927-40insGTGTGTT
ENST00000554980.5:n.1308-41_1308-40insGTGTGTT (TGFB3)
ENST00000555677.5:n.90-27769_90-27768insAACACAC (IFT43)
ENST00000557493.1:n.393-41_393-40insGTGTGTT (TGFB3)
NM_003239.3:c.927-41_927-40insGTGTGTT (TGFB3)	NP_003230.1:n.927-41_927-40insGTGTGTT
XM_005268028.1:c.927-41_927-40insGTGTGTT (TGFB3)	XP_005268085.1:n.927-41_927-40insGTGTGTT
NM_001329939.1:c.927-41_927-40insGTGTGTT (TGFB3)	NP_001316868.1:n.927-41_927-40insGTGTGTT
NM_003239.4:c.927-41_927-40insGTGTGTT (TGFB3)	NP_003230.1:n.927-41_927-40insGTGTGTT
NM_001329939.2:c.927-41_927-40insGTGTGTT (TGFB3)	NP_001316868.1:n.927-41_927-40insGTGTGTT
NM_003239.5:c.927-41_927-40insGTGTGTT (TGFB3) MANE Select	NP_003230.1:n.927-41_927-40insGTGTGTT