Canonical Allele Identifier: CA2616488598

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121145949-A-ATCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145949_121145950insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG , CM000673.2:g.121145949_121145950insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG	GRCh38
NC_000011.9:g.121016658_121016659insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG , CM000673.1:g.121016658_121016659insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG	GRCh37
NC_000011.8:g.120521868_120521869insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG	NCBI36
NG_011633.1:g.48284_48285insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA) MANE Select	ENSP00000376543.1:p.Lys1313AsnfsTer27
ENST00000642222.1:c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA)	ENSP00000493855.1:p.Lys1313AsnfsTer27
ENST00000645008.1:c.1245_1246insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA)
ENST00000264037.2:c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA)	ENSP00000264037.2:p.Lys1313AsnfsTer27
ENST00000392793.5:c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA)	ENSP00000376543.1:p.Lys1313AsnfsTer27
ENST00000478058.1:n.503_504insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA)
NM_005422.2:c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA)	NP_005413.2:p.Lys1313AsnfsTer27
NM_001378761.1:c.4895_4896insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TBCEL-TECTA)	NP_001365690.1:p.Lys1632AsnfsTer27
NM_005422.4:c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (TECTA) MANE Select	NP_005413.2:p.Lys1313AsnfsTer27