Canonical Allele Identifier: CA2675393434
Gene: TGFBI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046013del , CM000667.2:g.136046013del GRCh38
NC_000005.9:g.135381702del , CM000667.1:g.135381702del GRCh37
NC_000005.8:g.135409601del NCBI36
NG_012646.1:g.22119del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-322del MANE Select ENSP00000416330.2:n.299-322del
ENST00000442011.6:c.299-322del ENSP00000416330.2:n.299-322del
ENST00000504185.5:n.456-322del
ENST00000506699.5:n.364-322del
ENST00000507018.5:c.216-322del
ENST00000515433.1:n.269del
NM_000358.2:c.299-322del NP_000349.1:n.299-322del
NM_000358.3:c.299-322del MANE Select NP_000349.1:n.299-322del