Canonical Allele Identifier: CA2675393669
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046553-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046557del , CM000667.2:g.136046557del GRCh38
NC_000005.9:g.135382246del , CM000667.1:g.135382246del GRCh37
NC_000005.8:g.135410145del NCBI36
NG_012646.1:g.22663del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+62del MANE Select ENSP00000416330.2:n.459+62del
ENST00000442011.6:c.459+62del ENSP00000416330.2:n.459+62del
ENST00000506699.5:n.586del
ENST00000507018.5:c.437+1del
ENST00000515433.1:n.813del
NM_000358.2:c.459+62del NP_000349.1:n.459+62del
NM_000358.3:c.459+62del MANE Select NP_000349.1:n.459+62del
Search 100 bp 5'
Search 100 bp 3'