Canonical Allele Identifier: CA2004739321
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121160293_121160295delinsCAA , CM000673.2:g.121160293_121160295delinsCAA GRCh38
NC_000011.9:g.121031002_121031004delinsCAA , CM000673.1:g.121031002_121031004delinsCAA GRCh37
NC_000011.8:g.120536212_120536214delinsCAA NCBI36
NG_011633.1:g.62628_62630delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4848_4850delinsCAA (TECTA) MANE Select ENSP00000376543.1:p.Asn1616=
ENST00000642222.1:c.4848_4850delinsCAA (TECTA) ENSP00000493855.1:p.Asn1616=
ENST00000645008.1:c.2155_2157delinsCAA (TECTA)
ENST00000646278.1:n.784_786delinsCAA (TECTA)
ENST00000264037.2:c.4848_4850delinsCAA (TECTA) ENSP00000264037.2:p.Asn1616=
ENST00000392793.5:c.4848_4850delinsCAA (TECTA) ENSP00000376543.1:p.Asn1616=
NM_005422.2:c.4848_4850delinsCAA (TECTA) NP_005413.2:p.Asn1616=
NM_001378761.1:c.5805_5807delinsCAA (TBCEL-TECTA) NP_001365690.1:p.Asn1935=
NM_005422.4:c.4848_4850delinsCAA (TECTA) MANE Select NP_005413.2:p.Asn1616=