Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274958_2274963del , CM000681.2:g.2274958_2274963del | GRCh38 |
| NC_000019.9:g.2274957_2274962del , CM000681.1:g.2274957_2274962del | GRCh37 |
| NC_000019.8:g.2225957_2225962del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*726_*731del MANE Select | ENSP00000345102.3:n.*726_*731del | |
| ENST00000342063.4:c.*726_*731del | ENSP00000345102.3:n.*726_*731del | |
| ENST00000621615.1:c.146+5214_146+5219del | ENSP00000481965.1:n.146+5214_146+5219del | |
| NM_198532.2:c.*726_*731del | NP_940934.1:n.*726_*731del | |
| NM_198532.3:c.*726_*731del MANE Select | NP_940934.1:n.*726_*731del |