Canonical Allele Identifier: CA2783315597
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27172824_27172825insT , CM000671.2:g.27172824_27172825insT GRCh38
NC_000009.11:g.27172822_27172823insT , CM000671.1:g.27172822_27172823insT GRCh37
NC_000009.10:g.27162822_27162823insT NCBI36
NG_011828.1:g.68676_68677insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.760+77_760+78insT MANE Select ENSP00000369375.4:n.760+77_760+78insT
ENST00000380036.8:c.760+77_760+78insT ENSP00000369375.4:n.760+77_760+78insT
ENST00000406359.8:c.760+77_760+78insT ENSP00000383977.4:n.760+77_760+78insT
ENST00000519080.1:c.319+77_319+78insT ENSP00000428337.1:n.319+77_319+78insT
ENST00000519097.5:c.448+77_448+78insT ENSP00000430686.1:n.448+77_448+78insT
ENST00000615002.4:c.760+77_760+78insT ENSP00000480251.1:n.760+77_760+78insT
NM_000459.4:c.760+77_760+78insT NP_000450.2:n.760+77_760+78insT
NM_001290077.1:c.760+77_760+78insT NP_001277006.1:n.760+77_760+78insT
NM_001290078.1:c.448+77_448+78insT NP_001277007.1:n.448+77_448+78insT
XM_005251561.1:c.760+77_760+78insT XP_005251618.1:n.760+77_760+78insT
XM_005251563.1:c.760+77_760+78insT XP_005251620.1:n.760+77_760+78insT
XM_005251561.2:c.760+77_760+78insT XP_005251618.1:n.760+77_760+78insT
XM_005251563.2:c.760+77_760+78insT XP_005251620.1:n.760+77_760+78insT
NM_000459.5:c.760+77_760+78insT MANE Select NP_000450.3:n.760+77_760+78insT
NM_001375475.1:c.760+77_760+78insT NP_001362404.1:n.760+77_760+78insT
NM_001375476.1:c.760+77_760+78insT NP_001362405.1:n.760+77_760+78insT