Canonical Allele Identifier: CA2550374355
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27183249_27183253del , CM000671.2:g.27183249_27183253del GRCh38
NC_000009.11:g.27183247_27183251del , CM000671.1:g.27183247_27183251del GRCh37
NC_000009.10:g.27173247_27173251del NCBI36
NG_011828.1:g.79101_79105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.1031-210_1031-206del MANE Select ENSP00000369375.4:n.1031-210_1031-206del
ENST00000380036.8:c.1031-210_1031-206del ENSP00000369375.4:n.1031-210_1031-206del
ENST00000406359.8:c.902-210_902-206del ENSP00000383977.4:n.902-210_902-206del
ENST00000519080.1:c.461-210_461-206del ENSP00000428337.1:n.461-210_461-206del
ENST00000519097.5:c.590-210_590-206del ENSP00000430686.1:n.590-210_590-206del
ENST00000615002.4:c.902-210_902-206del ENSP00000480251.1:n.902-210_902-206del
NM_000459.4:c.1031-210_1031-206del NP_000450.2:n.1031-210_1031-206del
NM_001290077.1:c.902-210_902-206del NP_001277006.1:n.902-210_902-206del
NM_001290078.1:c.590-210_590-206del NP_001277007.1:n.590-210_590-206del
XM_005251561.1:c.1031-210_1031-206del XP_005251618.1:n.1031-210_1031-206del
XM_005251563.1:c.902-210_902-206del XP_005251620.1:n.902-210_902-206del
XM_005251561.2:c.1031-210_1031-206del XP_005251618.1:n.1031-210_1031-206del
XM_005251563.2:c.902-210_902-206del XP_005251620.1:n.902-210_902-206del
NM_000459.5:c.1031-210_1031-206del MANE Select NP_000450.3:n.1031-210_1031-206del
NM_001375475.1:c.1031-210_1031-206del NP_001362404.1:n.1031-210_1031-206del
NM_001375476.1:c.902-210_902-206del NP_001362405.1:n.902-210_902-206del