Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400519_18400522del , CM000670.2:g.18400519_18400522del | GRCh38 |
| NC_000008.10:g.18258029_18258032del , CM000670.1:g.18258029_18258032del | GRCh37 |
| NC_000008.9:g.18302309_18302312del | NCBI36 |
| NG_012246.1:g.14275_14278del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.516_519del MANE Select | NP_000006.2:p.Asn172LysfsTer? |
| ENST00000286479.4:c.516_519del MANE Select | ENSP00000286479.3:p.Asn172LysfsTer? |
| NM_000015.2:c.516_519del | NP_000006.2:p.Asn172LysfsTer? |
| ENST00000286479.3:c.516_519del | ENSP00000286479.3:p.Asn172LysfsTer? |
| ENST00000520116.1:c.126_129del | ENSP00000428416.1:p.Asn42LysfsTer? |
| XM_011544358.1:c.516_519del | XP_011542660.1:p.Asn172LysfsTer? |
| XM_017012938.1:c.516_519del | XP_016868427.1:p.Asn172LysfsTer? |