Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954174del , CM000670.2:g.19954174del | GRCh38 |
| NC_000008.10:g.19811685del , CM000670.1:g.19811685del | GRCh37 |
| NC_000008.9:g.19855965del | NCBI36 |
| NG_008855.1:g.20104del | |
| NG_008855.2:g.57458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.596del MANE Select | ENSP00000497642.1:p.Ser199PhefsTer8 | |
| ENST00000311322.8:c.596del | ENSP00000309757.6:p.Ser199PhefsTer8 | |
| NM_000237.2:c.596del | NP_000228.1:p.Ser199PhefsTer8 | |
| NM_000237.3:c.596del MANE Select | NP_000228.1:p.Ser199PhefsTer8 |