Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121113579dup , CM000673.2:g.121113579dup | GRCh38 |
| NC_000011.9:g.120984288dup , CM000673.1:g.120984288dup | GRCh37 |
| NC_000011.8:g.120489498dup | NCBI36 |
| NG_011633.1:g.15914dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005422.4:c.651dup (TECTA) MANE Select | NP_005413.2:p.Asn218GlnfsTer? |
| ENST00000392793.6:c.651dup (TECTA) MANE Select | ENSP00000376543.1:p.Asn218GlnfsTer? |
| NM_001378761.1:c.1608dup (TBCEL-TECTA) | NP_001365690.1:p.Asn537GlnfsTer? |
| NM_005422.2:c.651dup (TECTA) | NP_005413.2:p.Asn218GlnfsTer? |
| ENST00000264037.2:c.651dup (TECTA) | ENSP00000264037.2:p.Asn218GlnfsTer? |
| ENST00000392793.5:c.651dup (TECTA) | ENSP00000376543.1:p.Asn218GlnfsTer? |
| ENST00000642222.1:c.651dup (TECTA) | ENSP00000493855.1:p.Asn218GlnfsTer? |