Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396415_38396416delinsTC , CM000671.2:g.38396415_38396416delinsTC | GRCh38 |
| NC_000009.11:g.38396412_38396413delinsTC , CM000671.1:g.38396412_38396413delinsTC | GRCh37 |
| NC_000009.10:g.38386412_38386413delinsTC | NCBI36 |
| NG_012253.1:g.8711_8712delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.667_668delinsTC MANE Select | ENSP00000366927.3:p.Ser223= | |
| ENST00000377698.3:c.667_668delinsTC | ENSP00000366927.3:p.Ser223= | |
| NM_000692.4:c.667_668delinsTC | NP_000683.3:p.Ser223= | |
| XM_011517802.1:c.667_668delinsTC | XP_011516104.1:p.Ser223= | |
| XM_011517802.2:c.667_668delinsTC | XP_011516104.1:p.Ser223= | |
| NM_000692.5:c.667_668delinsTC MANE Select | NP_000683.3:p.Ser223= |