Canonical Allele Identifier: CA2783322709
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173504_27173507del , CM000671.2:g.27173504_27173507del GRCh38
NC_000009.11:g.27173502_27173505del , CM000671.1:g.27173502_27173505del GRCh37
NC_000009.10:g.27163502_27163505del NCBI36
NG_011828.1:g.69356_69359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.901+142_901+145del MANE Select ENSP00000369375.4:n.901+142_901+145del
ENST00000380036.8:c.901+142_901+145del ENSP00000369375.4:n.901+142_901+145del
ENST00000406359.8:c.901+142_901+145del ENSP00000383977.4:n.901+142_901+145del
ENST00000519080.1:c.460+142_460+145del ENSP00000428337.1:n.460+142_460+145del
ENST00000519097.5:c.589+142_589+145del ENSP00000430686.1:n.589+142_589+145del
ENST00000615002.4:c.901+142_901+145del ENSP00000480251.1:n.901+142_901+145del
NM_000459.4:c.901+142_901+145del NP_000450.2:n.901+142_901+145del
NM_001290077.1:c.901+142_901+145del NP_001277006.1:n.901+142_901+145del
NM_001290078.1:c.589+142_589+145del NP_001277007.1:n.589+142_589+145del
XM_005251561.1:c.901+142_901+145del XP_005251618.1:n.901+142_901+145del
XM_005251563.1:c.901+142_901+145del XP_005251620.1:n.901+142_901+145del
XM_005251561.2:c.901+142_901+145del XP_005251618.1:n.901+142_901+145del
XM_005251563.2:c.901+142_901+145del XP_005251620.1:n.901+142_901+145del
NM_000459.5:c.901+142_901+145del MANE Select NP_000450.3:n.901+142_901+145del
NM_001375475.1:c.901+142_901+145del NP_001362404.1:n.901+142_901+145del
NM_001375476.1:c.901+142_901+145del NP_001362405.1:n.901+142_901+145del