Canonical Allele Identifier: CA2675398393
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136056935-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056938del , CM000667.2:g.136056938del GRCh38
NC_000005.9:g.135392627del , CM000667.1:g.135392627del GRCh37
NC_000005.8:g.135420526del NCBI36
NG_012646.1:g.33044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+143del MANE Select ENSP00000416330.2:n.1678+143del
ENST00000442011.6:c.1678+143del ENSP00000416330.2:n.1678+143del
ENST00000506699.5:n.2195+143del
ENST00000507018.5:c.1656+143del
ENST00000509485.5:c.675+143del
ENST00000514242.5:n.449+143del
ENST00000514554.5:c.830+143del
NM_000358.2:c.1678+143del NP_000349.1:n.1678+143del
NM_000358.3:c.1678+143del MANE Select NP_000349.1:n.1678+143del
Search 100 bp 5'
Search 100 bp 3'