Canonical Allele Identifier: CA2783322704
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173500_27173506del , CM000671.2:g.27173500_27173506del GRCh38
NC_000009.11:g.27173498_27173504del , CM000671.1:g.27173498_27173504del GRCh37
NC_000009.10:g.27163498_27163504del NCBI36
NG_011828.1:g.69352_69358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.901+138_901+144del MANE Select ENSP00000369375.4:n.901+138_901+144del
ENST00000380036.8:c.901+138_901+144del ENSP00000369375.4:n.901+138_901+144del
ENST00000406359.8:c.901+138_901+144del ENSP00000383977.4:n.901+138_901+144del
ENST00000519080.1:c.460+138_460+144del ENSP00000428337.1:n.460+138_460+144del
ENST00000519097.5:c.589+138_589+144del ENSP00000430686.1:n.589+138_589+144del
ENST00000615002.4:c.901+138_901+144del ENSP00000480251.1:n.901+138_901+144del
NM_000459.4:c.901+138_901+144del NP_000450.2:n.901+138_901+144del
NM_001290077.1:c.901+138_901+144del NP_001277006.1:n.901+138_901+144del
NM_001290078.1:c.589+138_589+144del NP_001277007.1:n.589+138_589+144del
XM_005251561.1:c.901+138_901+144del XP_005251618.1:n.901+138_901+144del
XM_005251563.1:c.901+138_901+144del XP_005251620.1:n.901+138_901+144del
XM_005251561.2:c.901+138_901+144del XP_005251618.1:n.901+138_901+144del
XM_005251563.2:c.901+138_901+144del XP_005251620.1:n.901+138_901+144del
NM_000459.5:c.901+138_901+144del MANE Select NP_000450.3:n.901+138_901+144del
NM_001375475.1:c.901+138_901+144del NP_001362404.1:n.901+138_901+144del
NM_001375476.1:c.901+138_901+144del NP_001362405.1:n.901+138_901+144del