Canonical Allele Identifier: CA1584798610
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057006_136057007delinsTG , CM000667.2:g.136057006_136057007delinsTG GRCh38
NC_000005.9:g.135392695_135392696delinsTG , CM000667.1:g.135392695_135392696delinsTG GRCh37
NC_000005.8:g.135420594_135420595delinsTG NCBI36
NG_012646.1:g.33112_33113delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+211_1678+212delinsTG MANE Select ENSP00000416330.2:n.1678+211_1678+212delinsTG
ENST00000442011.6:c.1678+211_1678+212delinsTG ENSP00000416330.2:n.1678+211_1678+212delinsTG
ENST00000506699.5:n.2195+211_2195+212delinsTG
ENST00000507018.5:c.1656+211_1656+212delinsTG
ENST00000509485.5:c.675+211_675+212delinsTG
ENST00000514242.5:n.449+211_449+212delinsTG
ENST00000514554.5:c.830+211_830+212delinsTG
NM_000358.2:c.1678+211_1678+212delinsTG NP_000349.1:n.1678+211_1678+212delinsTG
NM_000358.3:c.1678+211_1678+212delinsTG MANE Select NP_000349.1:n.1678+211_1678+212delinsTG