Canonical Allele Identifier: CA128059278
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs761407755
MyVariant Identifiers: chr5:g.135392749_135392750insCCCTT (hg19) chr5:g.136057060_136057061insCCCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057060_136057061insCCCTT , CM000667.2:g.136057060_136057061insCCCTT GRCh38
NC_000005.9:g.135392749_135392750insCCCTT , CM000667.1:g.135392749_135392750insCCCTT GRCh37
NC_000005.8:g.135420648_135420649insCCCTT NCBI36
NG_012646.1:g.33166_33167insCCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+265_1678+266insCCCTT MANE Select ENSP00000416330.2:n.1678+265_1678+266insCCCTT
ENST00000442011.6:c.1678+265_1678+266insCCCTT ENSP00000416330.2:n.1678+265_1678+266insCCCTT
ENST00000506699.5:n.2195+265_2195+266insCCCTT
ENST00000507018.5:c.1656+265_1656+266insCCCTT
ENST00000509485.5:c.675+265_675+266insCCCTT
ENST00000514242.5:n.449+265_449+266insCCCTT
ENST00000514554.5:c.830+265_830+266insCCCTT
NM_000358.2:c.1678+265_1678+266insCCCTT NP_000349.1:n.1678+265_1678+266insCCCTT
NM_000358.3:c.1678+265_1678+266insCCCTT MANE Select NP_000349.1:n.1678+265_1678+266insCCCTT
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