Canonical Allele Identifier: CA2725114459
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs2135095810

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137539_121137540insAA , CM000673.2:g.121137539_121137540insAA GRCh38
NC_000011.9:g.121008248_121008249insAA , CM000673.1:g.121008248_121008249insAA GRCh37
NC_000011.8:g.120513458_120513459insAA NCBI36
NG_011633.1:g.39874_39875insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3060_3061insAA (TECTA) MANE Select ENSP00000376543.1:p.Glu1021LysfsTer?
ENST00000642222.1:c.3060_3061insAA (TECTA) ENSP00000493855.1:p.Glu1021LysfsTer?
ENST00000645008.1:c.367_368insAA (TECTA)
ENST00000264037.2:c.3060_3061insAA (TECTA) ENSP00000264037.2:p.Glu1021LysfsTer?
ENST00000392793.5:c.3060_3061insAA (TECTA) ENSP00000376543.1:p.Glu1021LysfsTer?
NM_005422.2:c.3060_3061insAA (TECTA) NP_005413.2:p.Glu1021LysfsTer?
NM_001378761.1:c.4017_4018insAA (TBCEL-TECTA) NP_001365690.1:p.Glu1340LysfsTer?
NM_005422.4:c.3060_3061insAA (TECTA) MANE Select NP_005413.2:p.Glu1021LysfsTer?