Canonical Allele Identifier: CA2004737499
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145707_121145709delinsCAT , CM000673.2:g.121145707_121145709delinsCAT GRCh38
NC_000011.9:g.121016416_121016418delinsCAT , CM000673.1:g.121016416_121016418delinsCAT GRCh37
NC_000011.8:g.120521626_120521628delinsCAT NCBI36
NG_011633.1:g.48042_48044delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3696_3698delinsCAT (TECTA) MANE Select ENSP00000376543.1:p.Ser1232=
ENST00000642222.1:c.3696_3698delinsCAT (TECTA) ENSP00000493855.1:p.Ser1232=
ENST00000645008.1:c.1003_1005delinsCAT (TECTA)
ENST00000264037.2:c.3696_3698delinsCAT (TECTA) ENSP00000264037.2:p.Ser1232=
ENST00000392793.5:c.3696_3698delinsCAT (TECTA) ENSP00000376543.1:p.Ser1232=
ENST00000478058.1:n.261_263delinsCAT (TECTA)
NM_005422.2:c.3696_3698delinsCAT (TECTA) NP_005413.2:p.Ser1232=
NM_001378761.1:c.4653_4655delinsCAT (TBCEL-TECTA) NP_001365690.1:p.Ser1551=
NM_005422.4:c.3696_3698delinsCAT (TECTA) MANE Select NP_005413.2:p.Ser1232=