Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23645752_23645753insA , CM000677.2:g.23645752_23645753insA | GRCh38 |
| NC_000015.9:g.23890899_23890900insA , CM000677.1:g.23890899_23890900insA | GRCh37 |
| NC_000015.8:g.21441992_21441993insA | NCBI36 |
| NG_016776.1:g.7094_7095insT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019066.5:c.1990_1991insT MANE Select | NP_061939.3:p.Pro664LeufsTer? |
| ENST00000650528.1:c.1990_1991insT MANE Select | ENSP00000497810.1:p.Pro664LeufsTer? |
| NM_019066.4:c.1990_1991insT | NP_061939.3:p.Pro664LeufsTer? |
| ENST00000532292.2:c.1990_1991insT | ENSP00000433433.2:p.Pro664LeufsTer? |