Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94063256_94063257del , CM000663.2:g.94063256_94063257del | GRCh38 |
| NC_000001.10:g.94528812_94528813del , CM000663.1:g.94528812_94528813del | GRCh37 |
| NC_000001.9:g.94301400_94301401del | NCBI36 |
| NG_009073.1:g.62899_62900del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1621_1622del MANE Select | ENSP00000359245.3:p.Leu541ThrfsTer14 | |
| ENST00000649773.1:c.1621_1622del | ENSP00000496882.1:p.Leu541ThrfsTer14 | |
| ENST00000370225.3:c.1621_1622del | ENSP00000359245.3:p.Leu541ThrfsTer14 | |
| NM_000350.2:c.1621_1622del | NP_000341.2:p.Leu541ThrfsTer14 | |
| NM_000350.3:c.1621_1622del MANE Select | NP_000341.2:p.Leu541ThrfsTer14 |