Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320756_119320757delinsCT , CM000666.2:g.119320756_119320757delinsCT | GRCh38 |
| NC_000004.11:g.120241911_120241912delinsCT , CM000666.1:g.120241911_120241912delinsCT | GRCh37 |
| NC_000004.10:g.120461359_120461360delinsCT | NCBI36 |
| NG_011444.1:g.6405_6406delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.153_154delinsAG MANE Select | ENSP00000274024.3:p.Lys51= | |
| ENST00000274024.3:c.153_154delinsAG | ENSP00000274024.3:p.Lys51= | |
| NM_000134.3:c.153_154delinsAG | NP_000125.2:p.Lys51= | |
| NM_000134.4:c.153_154delinsAG MANE Select | NP_000125.2:p.Lys51= |