Canonical Allele Identifier: CA2004743617
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162355_121162358delinsGAGA , CM000673.2:g.121162355_121162358delinsGAGA GRCh38
NC_000011.9:g.121033064_121033067delinsGAGA , CM000673.1:g.121033064_121033067delinsGAGA GRCh37
NC_000011.8:g.120538274_120538277delinsGAGA NCBI36
NG_011633.1:g.64690_64693delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5257_5260delinsGAGA (TECTA) MANE Select ENSP00000376543.1:p.Glu1753=
ENST00000642222.1:c.5242_5245delinsGAGA (TECTA) ENSP00000493855.1:p.Glu1748=
ENST00000645008.1:c.2549_2552delinsGAGA (TECTA)
ENST00000646278.1:n.1178_1181delinsGAGA (TECTA)
ENST00000264037.2:c.5257_5260delinsGAGA (TECTA) ENSP00000264037.2:p.Glu1753=
ENST00000392793.5:c.5257_5260delinsGAGA (TECTA) ENSP00000376543.1:p.Glu1753=
NM_005422.2:c.5257_5260delinsGAGA (TECTA) NP_005413.2:p.Glu1753=
NM_001378761.1:c.6199_6202delinsGAGA (TBCEL-TECTA) NP_001365690.1:p.Glu2067=
NM_005422.4:c.5257_5260delinsGAGA (TECTA) MANE Select NP_005413.2:p.Glu1753=