Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652357_171652358delinsCA , CM000663.2:g.171652357_171652358delinsCA | GRCh38 |
| NC_000001.10:g.171621497_171621498delinsCA , CM000663.1:g.171621497_171621498delinsCA | GRCh37 |
| NC_000001.9:g.169888120_169888121delinsCA | NCBI36 |
| NG_008859.1:g.5276_5277delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.254_255delinsTG MANE Select | ENSP00000037502.5:p.Leu85= | |
| ENST00000638471.1:c.130+124_130+125delinsTG | ENSP00000491206.1:n.130+124_130+125delinsTG | |
| ENST00000037502.10:c.254_255delinsTG | ENSP00000037502.5:p.Leu85= | |
| ENST00000614688.1:c.254_255delinsTG | ENSP00000478680.1:p.Leu85= | |
| NM_000261.1:c.254_255delinsTG | NP_000252.1:p.Leu85= | |
| NM_000261.2:c.254_255delinsTG MANE Select | NP_000252.1:p.Leu85= |