Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48443518_48443521del , CM000681.2:g.48443518_48443521del | GRCh38 |
| NC_000019.9:g.48946775_48946778del , CM000681.1:g.48946775_48946778del | GRCh37 |
| NC_000019.8:g.53638587_53638590del | NCBI36 |
| NG_046925.1:g.2746_2749del | |
| NG_052829.1:g.53644_53647del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000836.4:c.3592_3595del MANE Select | NP_000827.2:p.Ser1198ThrfsTer? |
| ENST00000263269.4:c.3592_3595del MANE Select | ENSP00000263269.2:p.Ser1198ThrfsTer? |
| NM_000836.2:c.3592_3595del | NP_000827.2:p.Ser1198ThrfsTer? |
| ENST00000263269.3:c.3592_3595del | ENSP00000263269.2:p.Ser1198ThrfsTer? |
| XM_011526872.1:c.3592_3595del | XP_011525174.1:p.Ser1198ThrfsTer? |