Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942205_94942215delinsCAATGGAAAGA , CM000672.2:g.94942205_94942215delinsCAATGGAAAGA | GRCh38 |
| NC_000010.10:g.96701962_96701972delinsCAATGGAAAGA , CM000672.1:g.96701962_96701972delinsCAATGGAAAGA | GRCh37 |
| NC_000010.9:g.96691952_96691962delinsCAATGGAAAGA | NCBI36 |
| NG_008385.1:g.8548_8558delinsCAATGGAAAGA | |
| NG_008385.2:g.9048_9058delinsCAATGGAAAGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.345_355delinsCAATGGAAAGA MANE Select | ENSP00000260682.6:p.Ser115= | |
| ENST00000643112.1:c.345_355delinsCAATGGAAAGA | ENSP00000496202.1:p.Ser115= | |
| ENST00000645207.1:n.498_508delinsCAATGGAAAGA | ||
| ENST00000260682.6:c.345_355delinsCAATGGAAAGA | ENSP00000260682.6:p.Ser115= | |
| ENST00000461906.1:n.370_380delinsCAATGGAAAGA | ||
| ENST00000473496.1:n.116_126delinsCAATGGAAAGA | ||
| NM_000771.3:c.345_355delinsCAATGGAAAGA | NP_000762.2:p.Ser115= | |
| NM_000771.4:c.345_355delinsCAATGGAAAGA MANE Select | NP_000762.2:p.Ser115= |