Canonical Allele Identifier: CA2004733566
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1946739467
gnomAD v4: 11-121137346-ACATG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137353_121137356del , CM000673.2:g.121137353_121137356del GRCh38
NC_000011.9:g.121008062_121008065del , CM000673.1:g.121008062_121008065del GRCh37
NC_000011.8:g.120513272_120513275del NCBI36
NG_011633.1:g.39688_39691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.2942-68_2942-65del (TECTA) MANE Select ENSP00000376543.1:n.2942-68_2942-65del
ENST00000642222.1:c.2942-68_2942-65del (TECTA) ENSP00000493855.1:n.2942-68_2942-65del
ENST00000645008.1:c.249-68_249-65del (TECTA)
ENST00000264037.2:c.2942-68_2942-65del (TECTA) ENSP00000264037.2:n.2942-68_2942-65del
ENST00000392793.5:c.2942-68_2942-65del (TECTA) ENSP00000376543.1:n.2942-68_2942-65del
NM_005422.2:c.2942-68_2942-65del (TECTA) NP_005413.2:n.2942-68_2942-65del
NM_001378761.1:c.3899-68_3899-65del (TBCEL-TECTA) NP_001365690.1:n.3899-68_3899-65del
NM_005422.4:c.2942-68_2942-65del (TECTA) MANE Select NP_005413.2:n.2942-68_2942-65del
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