Canonical Allele Identifier: CA128059311
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs200240899
MyVariant Identifiers: chr5:g.135392767_135392768insCTG (hg19) chr5:g.136057078_136057079insCTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057078_136057079insCTG , CM000667.2:g.136057078_136057079insCTG GRCh38
NC_000005.9:g.135392767_135392768insCTG , CM000667.1:g.135392767_135392768insCTG GRCh37
NC_000005.8:g.135420666_135420667insCTG NCBI36
NG_012646.1:g.33184_33185insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+283_1678+284insCTG MANE Select ENSP00000416330.2:n.1678+283_1678+284insCTG
ENST00000442011.6:c.1678+283_1678+284insCTG ENSP00000416330.2:n.1678+283_1678+284insCTG
ENST00000506699.5:n.2195+283_2195+284insCTG
ENST00000507018.5:c.1656+283_1656+284insCTG
ENST00000509485.5:c.675+283_675+284insCTG
ENST00000514242.5:n.449+283_449+284insCTG
ENST00000514554.5:c.830+283_830+284insCTG
NM_000358.2:c.1678+283_1678+284insCTG NP_000349.1:n.1678+283_1678+284insCTG
NM_000358.3:c.1678+283_1678+284insCTG MANE Select NP_000349.1:n.1678+283_1678+284insCTG
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