Canonical Allele Identifier: CA2512378082

Gene: TECTA TBCEL-TECTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162323_121162324insTA , CM000673.2:g.121162323_121162324insTA	GRCh38
NC_000011.9:g.121033032_121033033insTA , CM000673.1:g.121033032_121033033insTA	GRCh37
NC_000011.8:g.120538242_120538243insTA	NCBI36
NG_011633.1:g.64658_64659insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5225_5226insTA (TECTA) MANE Select	ENSP00000376543.1:p.Ser1743ThrfsTer?
ENST00000642222.1:c.5210_5211insTA (TECTA)	ENSP00000493855.1:p.Ser1738ThrfsTer?
ENST00000645008.1:c.2517_2518insTA (TECTA)
ENST00000646278.1:n.1146_1147insTA (TECTA)
ENST00000264037.2:c.5225_5226insTA (TECTA)	ENSP00000264037.2:p.Ser1743ThrfsTer?
ENST00000392793.5:c.5225_5226insTA (TECTA)	ENSP00000376543.1:p.Ser1743ThrfsTer?
NM_005422.2:c.5225_5226insTA (TECTA)	NP_005413.2:p.Ser1743ThrfsTer?
NM_001378761.1:c.6167_6168insTA (TBCEL-TECTA)	NP_001365690.1:p.Ser2057ThrfsTer?
NM_005422.4:c.5225_5226insTA (TECTA) MANE Select	NP_005413.2:p.Ser1743ThrfsTer?