Canonical Allele Identifier: CA2616488597

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121145948-A-AGCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145948_121145949insGCTCT , CM000673.2:g.121145948_121145949insGCTCT	GRCh38
NC_000011.9:g.121016657_121016658insGCTCT , CM000673.1:g.121016657_121016658insGCTCT	GRCh37
NC_000011.8:g.120521867_120521868insGCTCT	NCBI36
NG_011633.1:g.48283_48284insGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3937_3938insGCTCT (TECTA) MANE Select	ENSP00000376543.1:p.Lys1313SerfsTer?
ENST00000642222.1:c.3937_3938insGCTCT (TECTA)	ENSP00000493855.1:p.Lys1313SerfsTer?
ENST00000645008.1:c.1244_1245insGCTCT (TECTA)
ENST00000264037.2:c.3937_3938insGCTCT (TECTA)	ENSP00000264037.2:p.Lys1313SerfsTer?
ENST00000392793.5:c.3937_3938insGCTCT (TECTA)	ENSP00000376543.1:p.Lys1313SerfsTer?
ENST00000478058.1:n.502_503insGCTCT (TECTA)
NM_005422.2:c.3937_3938insGCTCT (TECTA)	NP_005413.2:p.Lys1313SerfsTer?
NM_001378761.1:c.4894_4895insGCTCT (TBCEL-TECTA)	NP_001365690.1:p.Lys1632SerfsTer?
NM_005422.4:c.3937_3938insGCTCT (TECTA) MANE Select	NP_005413.2:p.Lys1313SerfsTer?