Canonical Allele Identifier: CA1584798600

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056988_136056989delinsCT , CM000667.2:g.136056988_136056989delinsCT	GRCh38
NC_000005.9:g.135392677_135392678delinsCT , CM000667.1:g.135392677_135392678delinsCT	GRCh37
NC_000005.8:g.135420576_135420577delinsCT	NCBI36
NG_012646.1:g.33094_33095delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+193_1678+194delinsCT MANE Select	ENSP00000416330.2:n.1678+193_1678+194delinsCT
ENST00000442011.6:c.1678+193_1678+194delinsCT	ENSP00000416330.2:n.1678+193_1678+194delinsCT
ENST00000506699.5:n.2195+193_2195+194delinsCT
ENST00000507018.5:c.1656+193_1656+194delinsCT
ENST00000509485.5:c.675+193_675+194delinsCT
ENST00000514242.5:n.449+193_449+194delinsCT
ENST00000514554.5:c.830+193_830+194delinsCT
NM_000358.2:c.1678+193_1678+194delinsCT	NP_000349.1:n.1678+193_1678+194delinsCT
NM_000358.3:c.1678+193_1678+194delinsCT MANE Select	NP_000349.1:n.1678+193_1678+194delinsCT