Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190121350del , CM000665.2:g.190121350del | GRCh38 |
| NC_000003.11:g.189839139del , CM000665.1:g.189839139del | GRCh37 |
| NC_000003.10:g.191321833del | NCBI36 |
| NG_031929.1:g.6098del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134418.1:c.-64+863del (P3H2) | NP_001127890.1:n.-64+863del |
| NM_001134418.2:c.-64+863del (P3H2) | NP_001127890.1:n.-64+863del |
| NR_126419.1:n.126+261del (P3H2-AS1) | |
| ENST00000426003.1:c.-64+197del (P3H2) | ENSP00000394326.1:n.-64+197del |
| ENST00000427335.6:c.-64+863del (P3H2) | ENSP00000408947.2:n.-64+863del |
| XM_011512955.1:c.-64+197del (P3H2) | XP_011511257.1:n.-64+197del |