Canonical Allele Identifier: CA2675393761
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046663-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046664del , CM000667.2:g.136046664del GRCh38
NC_000005.9:g.135382353del , CM000667.1:g.135382353del GRCh37
NC_000005.8:g.135410252del NCBI36
NG_012646.1:g.22770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+169del MANE Select ENSP00000416330.2:n.459+169del
ENST00000442011.6:c.459+169del ENSP00000416330.2:n.459+169del
ENST00000506699.5:n.693del
ENST00000507018.5:c.437+108del
ENST00000515433.1:n.920del
NM_000358.2:c.459+169del NP_000349.1:n.459+169del
NM_000358.3:c.459+169del MANE Select NP_000349.1:n.459+169del
Search 100 bp 5'
Search 100 bp 3'