Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400776_18400777del , CM000670.2:g.18400776_18400777del | GRCh38 |
| NC_000008.10:g.18258286_18258287del , CM000670.1:g.18258286_18258287del | GRCh37 |
| NC_000008.9:g.18302566_18302567del | NCBI36 |
| NG_012246.1:g.14532_14533del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.773_774del MANE Select | ENSP00000286479.3:p.Leu258HisfsTer2 | |
| ENST00000286479.3:c.773_774del | ENSP00000286479.3:p.Leu258HisfsTer2 | |
| ENST00000520116.1:c.383_384del | ENSP00000428416.1:p.Leu128HisfsTer2 | |
| NM_000015.2:c.773_774del | NP_000006.2:p.Leu258HisfsTer2 | |
| XM_011544358.1:c.773_774del | XP_011542660.1:p.Leu258HisfsTer2 | |
| XM_017012938.1:c.773_774del | XP_016868427.1:p.Leu258HisfsTer2 | |
| NM_000015.3:c.773_774del MANE Select | NP_000006.2:p.Leu258HisfsTer2 |