Canonical Allele Identifier: CA1584791086
Gene: TGFBI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046525_136046536delinsTCTTATGGGGAA , CM000667.2:g.136046525_136046536delinsTCTTATGGGGAA GRCh38
NC_000005.9:g.135382214_135382225delinsTCTTATGGGGAA , CM000667.1:g.135382214_135382225delinsTCTTATGGGGAA GRCh37
NC_000005.8:g.135410113_135410124delinsTCTTATGGGGAA NCBI36
NG_012646.1:g.22631_22642delinsTCTTATGGGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+30_459+41delinsTCTTATGGGGAA MANE Select ENSP00000416330.2:n.459+30_459+41delinsTCTTATGGGGAA
ENST00000442011.6:c.459+30_459+41delinsTCTTATGGGGAA ENSP00000416330.2:n.459+30_459+41delinsTCTTATGGGGAA
ENST00000506699.5:n.554_565delinsTCTTATGGGGAA
ENST00000507018.5:c.406_417delinsTCTTATGGGGAA
ENST00000515433.1:n.781_792delinsTCTTATGGGGAA
NM_000358.2:c.459+30_459+41delinsTCTTATGGGGAA NP_000349.1:n.459+30_459+41delinsTCTTATGGGGAA
NM_000358.3:c.459+30_459+41delinsTCTTATGGGGAA MANE Select NP_000349.1:n.459+30_459+41delinsTCTTATGGGGAA
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