Canonical Allele Identifier: CA1584790905
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046184_136046185delinsGC , CM000667.2:g.136046184_136046185delinsGC GRCh38
NC_000005.9:g.135381873_135381874delinsGC , CM000667.1:g.135381873_135381874delinsGC GRCh37
NC_000005.8:g.135409772_135409773delinsGC NCBI36
NG_012646.1:g.22290_22291delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-151_299-150delinsGC MANE Select ENSP00000416330.2:n.299-151_299-150delinsGC
ENST00000442011.6:c.299-151_299-150delinsGC ENSP00000416330.2:n.299-151_299-150delinsGC
ENST00000504185.5:n.456-151_456-150delinsGC
ENST00000506699.5:n.364-151_364-150delinsGC
ENST00000507018.5:c.216-151_216-150delinsGC
ENST00000515433.1:n.440_441delinsGC
NM_000358.2:c.299-151_299-150delinsGC NP_000349.1:n.299-151_299-150delinsGC
NM_000358.3:c.299-151_299-150delinsGC MANE Select NP_000349.1:n.299-151_299-150delinsGC