Canonical Allele Identifier: CA2783315579
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27172790_27172791del , CM000671.2:g.27172790_27172791del GRCh38
NC_000009.11:g.27172788_27172789del , CM000671.1:g.27172788_27172789del GRCh37
NC_000009.10:g.27162788_27162789del NCBI36
NG_011828.1:g.68642_68643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.760+43_760+44del MANE Select ENSP00000369375.4:n.760+43_760+44del
ENST00000380036.8:c.760+43_760+44del ENSP00000369375.4:n.760+43_760+44del
ENST00000406359.8:c.760+43_760+44del ENSP00000383977.4:n.760+43_760+44del
ENST00000519080.1:c.319+43_319+44del ENSP00000428337.1:n.319+43_319+44del
ENST00000519097.5:c.448+43_448+44del ENSP00000430686.1:n.448+43_448+44del
ENST00000615002.4:c.760+43_760+44del ENSP00000480251.1:n.760+43_760+44del
NM_000459.4:c.760+43_760+44del NP_000450.2:n.760+43_760+44del
NM_001290077.1:c.760+43_760+44del NP_001277006.1:n.760+43_760+44del
NM_001290078.1:c.448+43_448+44del NP_001277007.1:n.448+43_448+44del
XM_005251561.1:c.760+43_760+44del XP_005251618.1:n.760+43_760+44del
XM_005251563.1:c.760+43_760+44del XP_005251620.1:n.760+43_760+44del
XM_005251561.2:c.760+43_760+44del XP_005251618.1:n.760+43_760+44del
XM_005251563.2:c.760+43_760+44del XP_005251620.1:n.760+43_760+44del
NM_000459.5:c.760+43_760+44del MANE Select NP_000450.3:n.760+43_760+44del
NM_001375475.1:c.760+43_760+44del NP_001362404.1:n.760+43_760+44del
NM_001375476.1:c.760+43_760+44del NP_001362405.1:n.760+43_760+44del