Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400707_18400708del , CM000670.2:g.18400707_18400708del | GRCh38 |
| NC_000008.10:g.18258217_18258218del , CM000670.1:g.18258217_18258218del | GRCh37 |
| NC_000008.9:g.18302497_18302498del | NCBI36 |
| NG_012246.1:g.14463_14464del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.704_705del MANE Select | NP_000006.2:p.Val235GlyfsTer7 |
| ENST00000286479.4:c.704_705del MANE Select | ENSP00000286479.3:p.Val235GlyfsTer7 |
| NM_000015.2:c.704_705del | NP_000006.2:p.Val235GlyfsTer7 |
| ENST00000286479.3:c.704_705del | ENSP00000286479.3:p.Val235GlyfsTer7 |
| ENST00000520116.1:c.314_315del | ENSP00000428416.1:p.Val105GlyfsTer7 |
| XM_011544358.1:c.704_705del | XP_011542660.1:p.Val235GlyfsTer7 |
| XM_017012938.1:c.704_705del | XP_016868427.1:p.Val235GlyfsTer7 |