Canonical Allele Identifier: CA2783315670
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27172878_27172884del , CM000671.2:g.27172878_27172884del GRCh38
NC_000009.11:g.27172876_27172882del , CM000671.1:g.27172876_27172882del GRCh37
NC_000009.10:g.27162876_27162882del NCBI36
NG_011828.1:g.68730_68736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.760+131_760+137del MANE Select ENSP00000369375.4:n.760+131_760+137del
ENST00000380036.8:c.760+131_760+137del ENSP00000369375.4:n.760+131_760+137del
ENST00000406359.8:c.760+131_760+137del ENSP00000383977.4:n.760+131_760+137del
ENST00000519080.1:c.319+131_319+137del ENSP00000428337.1:n.319+131_319+137del
ENST00000519097.5:c.448+131_448+137del ENSP00000430686.1:n.448+131_448+137del
ENST00000615002.4:c.760+131_760+137del ENSP00000480251.1:n.760+131_760+137del
NM_000459.4:c.760+131_760+137del NP_000450.2:n.760+131_760+137del
NM_001290077.1:c.760+131_760+137del NP_001277006.1:n.760+131_760+137del
NM_001290078.1:c.448+131_448+137del NP_001277007.1:n.448+131_448+137del
XM_005251561.1:c.760+131_760+137del XP_005251618.1:n.760+131_760+137del
XM_005251563.1:c.760+131_760+137del XP_005251620.1:n.760+131_760+137del
XM_005251561.2:c.760+131_760+137del XP_005251618.1:n.760+131_760+137del
XM_005251563.2:c.760+131_760+137del XP_005251620.1:n.760+131_760+137del
NM_000459.5:c.760+131_760+137del MANE Select NP_000450.3:n.760+131_760+137del
NM_001375475.1:c.760+131_760+137del NP_001362404.1:n.760+131_760+137del
NM_001375476.1:c.760+131_760+137del NP_001362405.1:n.760+131_760+137del