Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17071815_17071816del , CM000672.2:g.17071815_17071816del | GRCh38 |
| NC_000010.10:g.17113814_17113815del , CM000672.1:g.17113814_17113815del | GRCh37 |
| NC_000010.9:g.17153820_17153821del | NCBI36 |
| NG_008967.1:g.63005_63006del , LRG_540:g.63005_63006del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.2446+14_2446+15del MANE Select | NP_001072.2:n.2446+14_2446+15del |
| ENST00000377833.10:c.2446+14_2446+15del MANE Select | ENSP00000367064.4:n.2446+14_2446+15del |
| NM_001081.3:c.2446+14_2446+15del , LRG_540t1:c.2446+14_2446+15del | NP_001072.2:n.2446+14_2446+15del |
| ENST00000377833.8:c.2446+14_2446+15del | ENSP00000367064.4:n.2446+14_2446+15del |
| XM_011519708.1:c.2446+14_2446+15del | XP_011518010.1:n.2446+14_2446+15del |
| XM_011519708.2:c.2446+14_2446+15del | XP_011518010.1:n.2446+14_2446+15del |