Canonical Allele Identifier: CA6327346

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 1454924
• ClinVar RCV Id: RCV001942113
• dbSNP Id: rs749360244
• ExAC: 11:121016783 CAG / C
• gnomAD v2: 11-121016783-CAG-C
• gnomAD v4: 11-121146074-CAG-C
• MyVariant Identifiers: chr11:g.121016784_121016785del (hg19) ; chr11:g.121146075_121146076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121146075_121146076del , CM000673.2:g.121146075_121146076del	GRCh38
NC_000011.9:g.121016784_121016785del , CM000673.1:g.121016784_121016785del	GRCh37
NC_000011.8:g.120521994_120521995del	NCBI36
NG_011633.1:g.48410_48411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4064_4065del (TECTA) MANE Select	ENSP00000376543.1:p.Gln1355ArgfsTer?
ENST00000642222.1:c.4064_4065del (TECTA)	ENSP00000493855.1:p.Gln1355ArgfsTer?
ENST00000645008.1:c.1371_1372del (TECTA)
ENST00000264037.2:c.4064_4065del (TECTA)	ENSP00000264037.2:p.Gln1355ArgfsTer?
ENST00000392793.5:c.4064_4065del (TECTA)	ENSP00000376543.1:p.Gln1355ArgfsTer?
ENST00000478058.1:n.629_630del (TECTA)
NM_005422.2:c.4064_4065del (TECTA)	NP_005413.2:p.Gln1355ArgfsTer?
NM_001378761.1:c.5021_5022del (TBCEL-TECTA)	NP_001365690.1:p.Gln1674ArgfsTer?
NM_005422.4:c.4064_4065del (TECTA) MANE Select	NP_005413.2:p.Gln1355ArgfsTer?