Canonical Allele Identifier: CA672601778

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs978775235
• gnomAD v3: 11-121137270-G-GCACAAATGCATGCATA
• gnomAD v4: 11-121137270-G-GCACAAATGCATGCATA
• MyVariant Identifiers: chr11:g.121007979_121007980insCACAAATGCATGCATA (hg19) ; chr11:g.121137270_121137271insCACAAATGCATGCATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121137286_121137301dup , CM000673.2:g.121137286_121137301dup	GRCh38
NC_000011.9:g.121007995_121008010dup , CM000673.1:g.121007995_121008010dup	GRCh37
NC_000011.8:g.120513205_120513220dup	NCBI36
NG_011633.1:g.39621_39636dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.2942-135_2942-120dup (TECTA) MANE Select	ENSP00000376543.1:n.2942-135_2942-120dup
ENST00000642222.1:c.2942-135_2942-120dup (TECTA)	ENSP00000493855.1:n.2942-135_2942-120dup
ENST00000645008.1:c.249-135_249-120dup (TECTA)
ENST00000264037.2:c.2942-135_2942-120dup (TECTA)	ENSP00000264037.2:n.2942-135_2942-120dup
ENST00000392793.5:c.2942-135_2942-120dup (TECTA)	ENSP00000376543.1:n.2942-135_2942-120dup
NM_005422.2:c.2942-135_2942-120dup (TECTA)	NP_005413.2:n.2942-135_2942-120dup
NM_001378761.1:c.3899-135_3899-120dup (TBCEL-TECTA)	NP_001365690.1:n.3899-135_3899-120dup
NM_005422.4:c.2942-135_2942-120dup (TECTA) MANE Select	NP_005413.2:n.2942-135_2942-120dup