Canonical Allele Identifier: CA2675393723
Gene: TGFBI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046624del , CM000667.2:g.136046624del GRCh38
NC_000005.9:g.135382313del , CM000667.1:g.135382313del GRCh37
NC_000005.8:g.135410212del NCBI36
NG_012646.1:g.22730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+129del MANE Select ENSP00000416330.2:n.459+129del
ENST00000442011.6:c.459+129del ENSP00000416330.2:n.459+129del
ENST00000506699.5:n.653del
ENST00000507018.5:c.437+68del
ENST00000515433.1:n.880del
NM_000358.2:c.459+129del NP_000349.1:n.459+129del
NM_000358.3:c.459+129del MANE Select NP_000349.1:n.459+129del