Canonical Allele Identifier: CA2004737718
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121146202_121146204delinsCAG , CM000673.2:g.121146202_121146204delinsCAG GRCh38
NC_000011.9:g.121016911_121016913delinsCAG , CM000673.1:g.121016911_121016913delinsCAG GRCh37
NC_000011.8:g.120522121_120522123delinsCAG NCBI36
NG_011633.1:g.48537_48539delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4105+86_4105+88delinsCAG (TECTA) MANE Select ENSP00000376543.1:n.4105+86_4105+88delinsCAG
ENST00000642222.1:c.4105+86_4105+88delinsCAG (TECTA) ENSP00000493855.1:n.4105+86_4105+88delinsCAG
ENST00000645008.1:c.1412+86_1412+88delinsCAG (TECTA)
ENST00000646278.1:n.41+86_41+88delinsCAG (TECTA)
ENST00000264037.2:c.4105+86_4105+88delinsCAG (TECTA) ENSP00000264037.2:n.4105+86_4105+88delinsCAG
ENST00000392793.5:c.4105+86_4105+88delinsCAG (TECTA) ENSP00000376543.1:n.4105+86_4105+88delinsCAG
ENST00000478058.1:n.756_758delinsCAG (TECTA)
NM_005422.2:c.4105+86_4105+88delinsCAG (TECTA) NP_005413.2:n.4105+86_4105+88delinsCAG
NM_001378761.1:c.5062+86_5062+88delinsCAG (TBCEL-TECTA) NP_001365690.1:n.5062+86_5062+88delinsCAG
NM_005422.4:c.4105+86_4105+88delinsCAG (TECTA) MANE Select NP_005413.2:n.4105+86_4105+88delinsCAG