Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320459_119320461delinsCAG , CM000666.2:g.119320459_119320461delinsCAG | GRCh38 |
| NC_000004.11:g.120241614_120241616delinsCAG , CM000666.1:g.120241614_120241616delinsCAG | GRCh37 |
| NC_000004.10:g.120461062_120461064delinsCAG | NCBI36 |
| NG_011444.1:g.6701_6703delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+209_240+211delinsCTG MANE Select | ENSP00000274024.3:n.240+209_240+211delinsCTG | |
| ENST00000274024.3:c.240+209_240+211delinsCTG | ENSP00000274024.3:n.240+209_240+211delinsCTG | |
| NM_000134.3:c.240+209_240+211delinsCTG | NP_000125.2:n.240+209_240+211delinsCTG | |
| NM_000134.4:c.240+209_240+211delinsCTG MANE Select | NP_000125.2:n.240+209_240+211delinsCTG |