Canonical Allele Identifier: CA1842021763
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173340_27173342delinsGAA , CM000671.2:g.27173340_27173342delinsGAA GRCh38
NC_000009.11:g.27173338_27173340delinsGAA , CM000671.1:g.27173338_27173340delinsGAA GRCh37
NC_000009.10:g.27163338_27163340delinsGAA NCBI36
NG_011828.1:g.69192_69194delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.879_881delinsGAA MANE Select ENSP00000369375.4:p.Trp293=
ENST00000380036.8:c.879_881delinsGAA ENSP00000369375.4:p.Trp293=
ENST00000406359.8:c.879_881delinsGAA ENSP00000383977.4:p.Trp293=
ENST00000519080.1:c.438_440delinsGAA ENSP00000428337.1:p.Trp146=
ENST00000519097.5:c.567_569delinsGAA ENSP00000430686.1:p.Trp189=
ENST00000615002.4:c.879_881delinsGAA ENSP00000480251.1:p.Trp293=
NM_000459.4:c.879_881delinsGAA NP_000450.2:p.Trp293=
NM_001290077.1:c.879_881delinsGAA NP_001277006.1:p.Trp293=
NM_001290078.1:c.567_569delinsGAA NP_001277007.1:p.Trp189=
XM_005251561.1:c.879_881delinsGAA XP_005251618.1:p.Trp293=
XM_005251563.1:c.879_881delinsGAA XP_005251620.1:p.Trp293=
XM_005251561.2:c.879_881delinsGAA XP_005251618.1:p.Trp293=
XM_005251563.2:c.879_881delinsGAA XP_005251620.1:p.Trp293=
NM_000459.5:c.879_881delinsGAA MANE Select NP_000450.3:p.Trp293=
NM_001375475.1:c.879_881delinsGAA NP_001362404.1:p.Trp293=
NM_001375476.1:c.879_881delinsGAA NP_001362405.1:p.Trp293=