Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890746_9890782del , CM000665.2:g.9890746_9890782del | GRCh38 |
| NC_000003.11:g.9932430_9932466del , CM000665.1:g.9932430_9932466del | GRCh37 |
| NC_000003.10:g.9907430_9907466del | NCBI36 |
| NG_041779.1:g.5160_5196del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.24_60del | ENSP00000497724.1:p.Ala9SerfsTer9 | |
| ENST00000647897.1:c.24_60del MANE Select | ENSP00000496942.1:p.Ala9SerfsTer9 | |
| ENST00000307768.4:c.24_60del | ENSP00000306106.4:p.Ala9SerfsTer9 | |
| ENST00000489724.1:n.114_150del | ||
| ENST00000616966.2:c.24_60del | ENSP00000481606.1:p.Ala9SerfsTer9 | |
| NM_032492.3:c.24_60del | NP_115881.3:p.Ala9SerfsTer9 | |
| NM_001363890.1:c.-245_-209del | NP_001350819.1:n.-245_-209del | |
| NM_032492.4:c.24_60del MANE Select | NP_115881.3:p.Ala9SerfsTer9 |