Canonical Allele Identifier: CA602580302
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1412877300
gnomAD v2: 11-121033064-GAGA-G
MyVariant Identifiers: chr11:g.121033065_121033067del (hg19) chr11:g.121162356_121162358del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162358_121162360del , CM000673.2:g.121162358_121162360del GRCh38
NC_000011.9:g.121033067_121033069del , CM000673.1:g.121033067_121033069del GRCh37
NC_000011.8:g.120538277_120538279del NCBI36
NG_011633.1:g.64693_64695del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5260_5262del (TECTA) MANE Select ENSP00000376543.1:p.Lys1754del
ENST00000642222.1:c.5245_5247del (TECTA) ENSP00000493855.1:p.Lys1749del
ENST00000645008.1:c.2552_2554del (TECTA)
ENST00000646278.1:n.1181_1183del (TECTA)
ENST00000264037.2:c.5260_5262del (TECTA) ENSP00000264037.2:p.Lys1754del
ENST00000392793.5:c.5260_5262del (TECTA) ENSP00000376543.1:p.Lys1754del
NM_005422.2:c.5260_5262del (TECTA) NP_005413.2:p.Lys1754del
NM_001378761.1:c.6202_6204del (TBCEL-TECTA) NP_001365690.1:p.Lys2068del
NM_005422.4:c.5260_5262del (TECTA) MANE Select NP_005413.2:p.Lys1754del
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