Canonical Allele Identifier: CA658797822
Community Standard Title: NM_005422.4(TECTA):c.5754_5755del (p.Ile1919Ter)
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121168680_121168681del , CM000673.2:g.121168680_121168681del GRCh38
NC_000011.9:g.121039389_121039390del , CM000673.1:g.121039389_121039390del GRCh37
NC_000011.8:g.120544599_120544600del NCBI36
NG_011633.1:g.71015_71016del

Transcript Alleles

HGVS Amino-acid Change
NM_005422.4:c.5754_5755del (TECTA) MANE Select NP_005413.2:p.Ile1919Ter
ENST00000392793.6:c.5754_5755del (TECTA) MANE Select ENSP00000376543.1:p.Ile1919Ter
NM_001378761.1:c.6696_6697del (TBCEL-TECTA) NP_001365690.1:p.Ile2233Ter
NM_005422.2:c.5754_5755del (TECTA) NP_005413.2:p.Ile1919Ter
ENST00000264037.2:c.5754_5755del (TECTA) ENSP00000264037.2:p.Ile1919Ter
ENST00000392793.5:c.5754_5755del (TECTA) ENSP00000376543.1:p.Ile1919Ter
ENST00000642222.1:c.5739_5740del (TECTA) ENSP00000493855.1:p.Ile1914Ter
ENST00000645008.1:c.3046_3047del (TECTA)
ENST00000646278.1:n.2134_2135del (TECTA)