Canonical Allele Identifier: CA16043791
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 374550
dbSNP Id: rs1057519150

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121128336del , CM000673.2:g.121128336del GRCh38
NC_000011.9:g.120999045del , CM000673.1:g.120999045del GRCh37
NC_000011.8:g.120504255del NCBI36
NG_011633.1:g.30671del

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.2359del (TECTA) MANE Select ENSP00000376543.1:p.Glu787LysfsTer4
ENST00000642222.1:c.2359del (TECTA) ENSP00000493855.1:p.Glu787LysfsTer4
ENST00000264037.2:c.2359del (TECTA) ENSP00000264037.2:p.Glu787LysfsTer4
ENST00000392793.5:c.2359del (TECTA) ENSP00000376543.1:p.Glu787LysfsTer4
NM_005422.2:c.2359del (TECTA) NP_005413.2:p.Glu787LysfsTer4
NM_001378761.1:c.3316del (TBCEL-TECTA) NP_001365690.1:p.Glu1106LysfsTer4
NM_005422.4:c.2359del (TECTA) MANE Select NP_005413.2:p.Glu787LysfsTer4