Canonical Allele Identifier: CA2783315676
Gene: TEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27172879_27172881del , CM000671.2:g.27172879_27172881del GRCh38
NC_000009.11:g.27172877_27172879del , CM000671.1:g.27172877_27172879del GRCh37
NC_000009.10:g.27162877_27162879del NCBI36
NG_011828.1:g.68731_68733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.760+132_760+134del MANE Select ENSP00000369375.4:n.760+132_760+134del
ENST00000380036.8:c.760+132_760+134del ENSP00000369375.4:n.760+132_760+134del
ENST00000406359.8:c.760+132_760+134del ENSP00000383977.4:n.760+132_760+134del
ENST00000519080.1:c.319+132_319+134del ENSP00000428337.1:n.319+132_319+134del
ENST00000519097.5:c.448+132_448+134del ENSP00000430686.1:n.448+132_448+134del
ENST00000615002.4:c.760+132_760+134del ENSP00000480251.1:n.760+132_760+134del
NM_000459.4:c.760+132_760+134del NP_000450.2:n.760+132_760+134del
NM_001290077.1:c.760+132_760+134del NP_001277006.1:n.760+132_760+134del
NM_001290078.1:c.448+132_448+134del NP_001277007.1:n.448+132_448+134del
XM_005251561.1:c.760+132_760+134del XP_005251618.1:n.760+132_760+134del
XM_005251563.1:c.760+132_760+134del XP_005251620.1:n.760+132_760+134del
XM_005251561.2:c.760+132_760+134del XP_005251618.1:n.760+132_760+134del
XM_005251563.2:c.760+132_760+134del XP_005251620.1:n.760+132_760+134del
NM_000459.5:c.760+132_760+134del MANE Select NP_000450.3:n.760+132_760+134del
NM_001375475.1:c.760+132_760+134del NP_001362404.1:n.760+132_760+134del
NM_001375476.1:c.760+132_760+134del NP_001362405.1:n.760+132_760+134del