Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451670_52451671delinsCT , CM000674.2:g.52451670_52451671delinsCT | GRCh38 |
| NC_000012.11:g.52845454_52845455delinsCT , CM000674.1:g.52845454_52845455delinsCT | GRCh37 |
| NC_000012.10:g.51131721_51131722delinsCT | NCBI36 |
| NG_008299.1:g.5456_5457delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.408_409delinsAG MANE Select | ENSP00000252252.3:p.Gln136= | |
| ENST00000252252.3:c.408_409delinsAG | ENSP00000252252.3:p.Gln136= | |
| NM_005555.3:c.408_409delinsAG | NP_005546.2:p.Gln136= | |
| NM_005555.4:c.408_409delinsAG MANE Select | NP_005546.2:p.Gln136= |