Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021515_94021517del , CM000663.2:g.94021515_94021517del | GRCh38 |
| NC_000001.10:g.94487071_94487073del , CM000663.1:g.94487071_94487073del | GRCh37 |
| NC_000001.9:g.94259659_94259661del | NCBI36 |
| NG_009073.1:g.104635_104637del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4849-106_4849-104del MANE Select | ENSP00000359245.3:n.4849-106_4849-104del | |
| ENST00000370225.3:c.4849-106_4849-104del | ENSP00000359245.3:n.4849-106_4849-104del | |
| ENST00000460514.1:n.343-106_343-104del | ||
| ENST00000536513.5:c.1225-106_1225-104del | ENSP00000439707.2:n.1225-106_1225-104del | |
| NM_000350.2:c.4849-106_4849-104del | NP_000341.2:n.4849-106_4849-104del | |
| NM_000350.3:c.4849-106_4849-104del MANE Select | NP_000341.2:n.4849-106_4849-104del |