Canonical Allele Identifier: CA2675397180
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055642-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055644del , CM000667.2:g.136055644del GRCh38
NC_000005.9:g.135391333del , CM000667.1:g.135391333del GRCh37
NC_000005.8:g.135419232del NCBI36
NG_012646.1:g.31750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-36del MANE Select ENSP00000416330.2:n.1411-36del
ENST00000442011.6:c.1411-36del ENSP00000416330.2:n.1411-36del
ENST00000506699.5:n.1928-36del
ENST00000507018.5:c.1389-36del
ENST00000509485.5:c.326-36del
ENST00000514242.5:n.146del
ENST00000514554.5:c.563-36del
NM_000358.2:c.1411-36del NP_000349.1:n.1411-36del
NM_000358.3:c.1411-36del MANE Select NP_000349.1:n.1411-36del
Search 100 bp 5'
Search 100 bp 3'