Canonical Allele Identifier: CA2689641472

Gene: TEK

Linked Data

• gnomAD v4: 9-27173292-T-TCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173292_27173293insCCAA , CM000671.2:g.27173292_27173293insCCAA	GRCh38
NC_000009.11:g.27173290_27173291insCCAA , CM000671.1:g.27173290_27173291insCCAA	GRCh37
NC_000009.10:g.27163290_27163291insCCAA	NCBI36
NG_011828.1:g.69144_69145insCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.831_832insCCAA MANE Select	ENSP00000369375.4:p.Val278ProfsTer7
ENST00000380036.8:c.831_832insCCAA	ENSP00000369375.4:p.Val278ProfsTer7
ENST00000406359.8:c.831_832insCCAA	ENSP00000383977.4:p.Val278ProfsTer7
ENST00000519080.1:c.390_391insCCAA	ENSP00000428337.1:p.Val131ProfsTer7
ENST00000519097.5:c.519_520insCCAA	ENSP00000430686.1:p.Val174ProfsTer7
ENST00000615002.4:c.831_832insCCAA	ENSP00000480251.1:p.Val278ProfsTer7
NM_000459.4:c.831_832insCCAA	NP_000450.2:p.Val278ProfsTer7
NM_001290077.1:c.831_832insCCAA	NP_001277006.1:p.Val278ProfsTer7
NM_001290078.1:c.519_520insCCAA	NP_001277007.1:p.Val174ProfsTer7
XM_005251561.1:c.831_832insCCAA	XP_005251618.1:p.Val278ProfsTer7
XM_005251563.1:c.831_832insCCAA	XP_005251620.1:p.Val278ProfsTer7
XM_005251561.2:c.831_832insCCAA	XP_005251618.1:p.Val278ProfsTer7
XM_005251563.2:c.831_832insCCAA	XP_005251620.1:p.Val278ProfsTer7
NM_000459.5:c.831_832insCCAA MANE Select	NP_000450.3:p.Val278ProfsTer7
NM_001375475.1:c.831_832insCCAA	NP_001362404.1:p.Val278ProfsTer7
NM_001375476.1:c.831_832insCCAA	NP_001362405.1:p.Val278ProfsTer7