Canonical Allele Identifier: CA2783315658
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27172871_27172872insTC , CM000671.2:g.27172871_27172872insTC GRCh38
NC_000009.11:g.27172869_27172870insTC , CM000671.1:g.27172869_27172870insTC GRCh37
NC_000009.10:g.27162869_27162870insTC NCBI36
NG_011828.1:g.68723_68724insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.760+124_760+125insTC MANE Select ENSP00000369375.4:n.760+124_760+125insTC
ENST00000380036.8:c.760+124_760+125insTC ENSP00000369375.4:n.760+124_760+125insTC
ENST00000406359.8:c.760+124_760+125insTC ENSP00000383977.4:n.760+124_760+125insTC
ENST00000519080.1:c.319+124_319+125insTC ENSP00000428337.1:n.319+124_319+125insTC
ENST00000519097.5:c.448+124_448+125insTC ENSP00000430686.1:n.448+124_448+125insTC
ENST00000615002.4:c.760+124_760+125insTC ENSP00000480251.1:n.760+124_760+125insTC
NM_000459.4:c.760+124_760+125insTC NP_000450.2:n.760+124_760+125insTC
NM_001290077.1:c.760+124_760+125insTC NP_001277006.1:n.760+124_760+125insTC
NM_001290078.1:c.448+124_448+125insTC NP_001277007.1:n.448+124_448+125insTC
XM_005251561.1:c.760+124_760+125insTC XP_005251618.1:n.760+124_760+125insTC
XM_005251563.1:c.760+124_760+125insTC XP_005251620.1:n.760+124_760+125insTC
XM_005251561.2:c.760+124_760+125insTC XP_005251618.1:n.760+124_760+125insTC
XM_005251563.2:c.760+124_760+125insTC XP_005251620.1:n.760+124_760+125insTC
NM_000459.5:c.760+124_760+125insTC MANE Select NP_000450.3:n.760+124_760+125insTC
NM_001375475.1:c.760+124_760+125insTC NP_001362404.1:n.760+124_760+125insTC
NM_001375476.1:c.760+124_760+125insTC NP_001362405.1:n.760+124_760+125insTC