Canonical Allele Identifier: CA2675393707
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046605-AGCTT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046606_136046609del , CM000667.2:g.136046606_136046609del GRCh38
NC_000005.9:g.135382295_135382298del , CM000667.1:g.135382295_135382298del GRCh37
NC_000005.8:g.135410194_135410197del NCBI36
NG_012646.1:g.22712_22715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+111_459+114del MANE Select ENSP00000416330.2:n.459+111_459+114del
ENST00000442011.6:c.459+111_459+114del ENSP00000416330.2:n.459+111_459+114del
ENST00000506699.5:n.635_638del
ENST00000507018.5:c.437+50_437+53del
ENST00000515433.1:n.862_865del
NM_000358.2:c.459+111_459+114del NP_000349.1:n.459+111_459+114del
NM_000358.3:c.459+111_459+114del MANE Select NP_000349.1:n.459+111_459+114del
Search 100 bp 5'
Search 100 bp 3'