Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021437_94021441del , CM000663.2:g.94021437_94021441del | GRCh38 |
| NC_000001.10:g.94486993_94486997del , CM000663.1:g.94486993_94486997del | GRCh37 |
| NC_000001.9:g.94259581_94259585del | NCBI36 |
| NG_009073.1:g.104710_104714del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4849-31_4849-27del MANE Select | ENSP00000359245.3:n.4849-31_4849-27del | |
| ENST00000370225.3:c.4849-31_4849-27del | ENSP00000359245.3:n.4849-31_4849-27del | |
| ENST00000460514.1:n.343-31_343-27del | ||
| ENST00000536513.5:c.1225-31_1225-27del | ENSP00000439707.2:n.1225-31_1225-27del | |
| NM_000350.2:c.4849-31_4849-27del | NP_000341.2:n.4849-31_4849-27del | |
| NM_000350.3:c.4849-31_4849-27del MANE Select | NP_000341.2:n.4849-31_4849-27del |