Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733218_37733220del , CM000684.2:g.37733218_37733220del | GRCh38 |
| NC_000022.10:g.38129225_38129227del , CM000684.1:g.38129225_38129227del | GRCh37 |
| NC_000022.9:g.36459171_36459173del | NCBI36 |
| NG_012857.1:g.41231_41233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3948-80_3948-78del MANE Select | ENSP00000496394.1:n.3948-80_3948-78del | |
| ENST00000344404.10:c.*3431-80_*3431-78del | ENSP00000340312.6:n.*3431-80_*3431-78del | |
| ENST00000406386.7:c.3948-80_3948-78del | ENSP00000384312.3:n.3948-80_3948-78del | |
| NM_001039141.2:c.3948-80_3948-78del | NP_001034230.1:n.3948-80_3948-78del | |
| XM_011530646.1:c.512-2856_512-2854del | XP_011528948.1:n.512-2856_512-2854del | |
| NM_001039141.3:c.3948-80_3948-78del MANE Select | NP_001034230.1:n.3948-80_3948-78del |