Canonical Allele Identifier: CA2719042303
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs2131149464

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27172998_27173002del , CM000671.2:g.27172998_27173002del GRCh38
NC_000009.11:g.27172996_27173000del , CM000671.1:g.27172996_27173000del GRCh37
NC_000009.10:g.27162996_27163000del NCBI36
NG_011828.1:g.68850_68854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.761-224_761-220del MANE Select ENSP00000369375.4:n.761-224_761-220del
ENST00000380036.8:c.761-224_761-220del ENSP00000369375.4:n.761-224_761-220del
ENST00000406359.8:c.761-224_761-220del ENSP00000383977.4:n.761-224_761-220del
ENST00000519080.1:c.320-224_320-220del ENSP00000428337.1:n.320-224_320-220del
ENST00000519097.5:c.449-224_449-220del ENSP00000430686.1:n.449-224_449-220del
ENST00000615002.4:c.761-224_761-220del ENSP00000480251.1:n.761-224_761-220del
NM_000459.4:c.761-224_761-220del NP_000450.2:n.761-224_761-220del
NM_001290077.1:c.761-224_761-220del NP_001277006.1:n.761-224_761-220del
NM_001290078.1:c.449-224_449-220del NP_001277007.1:n.449-224_449-220del
XM_005251561.1:c.761-224_761-220del XP_005251618.1:n.761-224_761-220del
XM_005251563.1:c.761-224_761-220del XP_005251620.1:n.761-224_761-220del
XM_005251561.2:c.761-224_761-220del XP_005251618.1:n.761-224_761-220del
XM_005251563.2:c.761-224_761-220del XP_005251620.1:n.761-224_761-220del
NM_000459.5:c.761-224_761-220del MANE Select NP_000450.3:n.761-224_761-220del
NM_001375475.1:c.761-224_761-220del NP_001362404.1:n.761-224_761-220del
NM_001375476.1:c.761-224_761-220del NP_001362405.1:n.761-224_761-220del