Canonical Allele Identifier: CA2689641474

Gene: TEK

Linked Data

• gnomAD v4: 9-27173323-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173325del , CM000671.2:g.27173325del	GRCh38
NC_000009.11:g.27173323del , CM000671.1:g.27173323del	GRCh37
NC_000009.10:g.27163323del	NCBI36
NG_011828.1:g.69177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.864del MANE Select	ENSP00000369375.4:p.Cys289ValfsTer?
ENST00000380036.8:c.864del	ENSP00000369375.4:p.Cys289ValfsTer?
ENST00000406359.8:c.864del	ENSP00000383977.4:p.Cys289ValfsTer17
ENST00000519080.1:c.423del	ENSP00000428337.1:p.Cys142ValfsTer17
ENST00000519097.5:c.552del	ENSP00000430686.1:p.Cys185ValfsTer17
ENST00000615002.4:c.864del	ENSP00000480251.1:p.Cys289ValfsTer17
NM_000459.4:c.864del	NP_000450.2:p.Cys289ValfsTer?
NM_001290077.1:c.864del	NP_001277006.1:p.Cys289ValfsTer17
NM_001290078.1:c.552del	NP_001277007.1:p.Cys185ValfsTer17
XM_005251561.1:c.864del	XP_005251618.1:p.Cys289ValfsTer?
XM_005251563.1:c.864del	XP_005251620.1:p.Cys289ValfsTer17
XM_005251561.2:c.864del	XP_005251618.1:p.Cys289ValfsTer?
XM_005251563.2:c.864del	XP_005251620.1:p.Cys289ValfsTer17
NM_000459.5:c.864del MANE Select	NP_000450.3:p.Cys289ValfsTer?
NM_001375475.1:c.864del	NP_001362404.1:p.Cys289ValfsTer?
NM_001375476.1:c.864del	NP_001362405.1:p.Cys289ValfsTer17