Canonical Allele Identifier: CA2675397163
Gene: TGFBI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055630del , CM000667.2:g.136055630del GRCh38
NC_000005.9:g.135391319del , CM000667.1:g.135391319del GRCh37
NC_000005.8:g.135419218del NCBI36
NG_012646.1:g.31736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-50del MANE Select ENSP00000416330.2:n.1411-50del
ENST00000442011.6:c.1411-50del ENSP00000416330.2:n.1411-50del
ENST00000506699.5:n.1928-50del
ENST00000507018.5:c.1389-50del
ENST00000509485.5:c.326-50del
ENST00000514242.5:n.132del
ENST00000514554.5:c.563-50del
NM_000358.2:c.1411-50del NP_000349.1:n.1411-50del
NM_000358.3:c.1411-50del MANE Select NP_000349.1:n.1411-50del