Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96332188_96332189dup , CM000677.2:g.96332188_96332189dup | GRCh38 |
| NC_000015.9:g.96875417_96875418dup , CM000677.1:g.96875417_96875418dup | GRCh37 |
| NC_000015.8:g.94676421_94676422dup | NCBI36 |
| NG_016753.1:g.11261_11262dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394166.8:c.83_84dup MANE Select | ENSP00000377721.3:p.Val29ProfsTer? | |
| ENST00000394166.7:c.83_84dup | ENSP00000377721.3:p.Val29ProfsTer? | |
| ENST00000421109.6:c.44-1888_44-1887dup | ENSP00000401674.2:n.44-1888_44-1887dup | |
| NM_001145155.1:c.44-1888_44-1887dup | NP_001138627.1:n.44-1888_44-1887dup | |
| NM_021005.3:c.83_84dup | NP_066285.1:p.Val29ProfsTer? | |
| NM_021005.4:c.83_84dup MANE Select | NP_066285.1:p.Val29ProfsTer? | |
| NM_001145155.2:c.44-1888_44-1887dup | NP_001138627.1:n.44-1888_44-1887dup |