Canonical Allele Identifier: CA1584791116

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046574_136046581delinsGAGTCTGC , CM000667.2:g.136046574_136046581delinsGAGTCTGC	GRCh38
NC_000005.9:g.135382263_135382270delinsGAGTCTGC , CM000667.1:g.135382263_135382270delinsGAGTCTGC	GRCh37
NC_000005.8:g.135410162_135410169delinsGAGTCTGC	NCBI36
NG_012646.1:g.22680_22687delinsGAGTCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.459+79_459+86delinsGAGTCTGC MANE Select	ENSP00000416330.2:n.459+79_459+86delinsGAGTCTGC
ENST00000442011.6:c.459+79_459+86delinsGAGTCTGC	ENSP00000416330.2:n.459+79_459+86delinsGAGTCTGC
ENST00000506699.5:n.603_610delinsGAGTCTGC
ENST00000507018.5:c.437+18_437+25delinsGAGTCTGC
ENST00000515433.1:n.830_837delinsGAGTCTGC
NM_000358.2:c.459+79_459+86delinsGAGTCTGC	NP_000349.1:n.459+79_459+86delinsGAGTCTGC
NM_000358.3:c.459+79_459+86delinsGAGTCTGC MANE Select	NP_000349.1:n.459+79_459+86delinsGAGTCTGC