Canonical Allele Identifier: CA2783315799
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173298_27173331del , CM000671.2:g.27173298_27173331del GRCh38
NC_000009.11:g.27173296_27173329del , CM000671.1:g.27173296_27173329del GRCh37
NC_000009.10:g.27163296_27163329del NCBI36
NG_011828.1:g.69150_69183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.837_870del MANE Select ENSP00000369375.4:p.Phe279LeufsTer?
ENST00000380036.8:c.837_870del ENSP00000369375.4:p.Phe279LeufsTer?
ENST00000406359.8:c.837_870del ENSP00000383977.4:p.Phe279LeufsTer16
ENST00000519080.1:c.396_429del ENSP00000428337.1:p.Phe132LeufsTer16
ENST00000519097.5:c.525_558del ENSP00000430686.1:p.Phe175LeufsTer16
ENST00000615002.4:c.837_870del ENSP00000480251.1:p.Phe279LeufsTer16
NM_000459.4:c.837_870del NP_000450.2:p.Phe279LeufsTer?
NM_001290077.1:c.837_870del NP_001277006.1:p.Phe279LeufsTer16
NM_001290078.1:c.525_558del NP_001277007.1:p.Phe175LeufsTer16
XM_005251561.1:c.837_870del XP_005251618.1:p.Phe279LeufsTer?
XM_005251563.1:c.837_870del XP_005251620.1:p.Phe279LeufsTer16
XM_005251561.2:c.837_870del XP_005251618.1:p.Phe279LeufsTer?
XM_005251563.2:c.837_870del XP_005251620.1:p.Phe279LeufsTer16
NM_000459.5:c.837_870del MANE Select NP_000450.3:p.Phe279LeufsTer?
NM_001375475.1:c.837_870del NP_001362404.1:p.Phe279LeufsTer?
NM_001375476.1:c.837_870del NP_001362405.1:p.Phe279LeufsTer16