Canonical Allele Identifier: CA1584791099
Gene: TGFBI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046547_136046548delinsTC , CM000667.2:g.136046547_136046548delinsTC GRCh38
NC_000005.9:g.135382236_135382237delinsTC , CM000667.1:g.135382236_135382237delinsTC GRCh37
NC_000005.8:g.135410135_135410136delinsTC NCBI36
NG_012646.1:g.22653_22654delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+52_459+53delinsTC MANE Select ENSP00000416330.2:n.459+52_459+53delinsTC
ENST00000442011.6:c.459+52_459+53delinsTC ENSP00000416330.2:n.459+52_459+53delinsTC
ENST00000506699.5:n.576_577delinsTC
ENST00000507018.5:c.428_429delinsTC
ENST00000515433.1:n.803_804delinsTC
NM_000358.2:c.459+52_459+53delinsTC NP_000349.1:n.459+52_459+53delinsTC
NM_000358.3:c.459+52_459+53delinsTC MANE Select NP_000349.1:n.459+52_459+53delinsTC
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