Canonical Allele Identifier: CA672605117

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 667390
• ClinVar RCV Id: RCV000826130
• dbSNP Id: rs1229070290
• gnomAD v3: 11-121162330-CG-C
• gnomAD v4: 11-121162330-CG-C
• MyVariant Identifiers: chr11:g.121033040del (hg19) ; chr11:g.121162331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162333del , CM000673.2:g.121162333del	GRCh38
NC_000011.9:g.121033042del , CM000673.1:g.121033042del	GRCh37
NC_000011.8:g.120538252del	NCBI36
NG_011633.1:g.64668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5235del (TECTA) MANE Select	ENSP00000376543.1:p.Ile1746SerfsTer?
ENST00000642222.1:c.5220del (TECTA)	ENSP00000493855.1:p.Ile1741SerfsTer?
ENST00000645008.1:c.2527del (TECTA)
ENST00000646278.1:n.1156del (TECTA)
ENST00000264037.2:c.5235del (TECTA)	ENSP00000264037.2:p.Ile1746SerfsTer?
ENST00000392793.5:c.5235del (TECTA)	ENSP00000376543.1:p.Ile1746SerfsTer?
NM_005422.2:c.5235del (TECTA)	NP_005413.2:p.Ile1746SerfsTer?
NM_001378761.1:c.6177del (TBCEL-TECTA)	NP_001365690.1:p.Ile2060SerfsTer?
NM_005422.4:c.5235del (TECTA) MANE Select	NP_005413.2:p.Ile1746SerfsTer?