Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400516_18400528del , CM000670.2:g.18400516_18400528del | GRCh38 |
| NC_000008.10:g.18258026_18258038del , CM000670.1:g.18258026_18258038del | GRCh37 |
| NC_000008.9:g.18302306_18302318del | NCBI36 |
| NG_012246.1:g.14272_14284del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.513_525del MANE Select | ENSP00000286479.3:p.Asn172LeufsTer? | |
| ENST00000286479.3:c.513_525del | ENSP00000286479.3:p.Asn172LeufsTer? | |
| ENST00000520116.1:c.123_135del | ENSP00000428416.1:p.Asn42LeufsTer? | |
| NM_000015.2:c.513_525del | NP_000006.2:p.Asn172LeufsTer? | |
| XM_011544358.1:c.513_525del | XP_011542660.1:p.Asn172LeufsTer? | |
| XM_017012938.1:c.513_525del | XP_016868427.1:p.Asn172LeufsTer? | |
| NM_000015.3:c.513_525del MANE Select | NP_000006.2:p.Asn172LeufsTer? |