Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192031_15192035del , CM000681.2:g.15192031_15192035del | GRCh38 |
| NC_000019.9:g.15302842_15302846del , CM000681.1:g.15302842_15302846del | GRCh37 |
| NC_000019.8:g.15163842_15163846del | NCBI36 |
| NG_009819.1:g.13947_13951del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.604_608del MANE Select | ENSP00000263388.1:p.Ala202LeufsTer5 | |
| ENST00000263388.6:c.604_608del | ENSP00000263388.1:p.Ala202LeufsTer5 | |
| ENST00000601011.1:c.601_605del | ENSP00000473138.1:p.Ala201LeufsTer5 | |
| NM_000435.2:c.604_608del | NP_000426.2:p.Ala202LeufsTer5 | |
| XM_005259924.3:c.604_608del | XP_005259981.1:p.Ala202LeufsTer5 | |
| XM_005259924.4:c.604_608del | XP_005259981.1:p.Ala202LeufsTer5 | |
| NM_000435.3:c.604_608del MANE Select | NP_000426.2:p.Ala202LeufsTer5 |