Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55081855_55081858del , CM000666.2:g.55081855_55081858del | GRCh38 |
| NC_000004.11:g.55948022_55948025del , CM000666.1:g.55948022_55948025del | GRCh37 |
| NC_000004.10:g.55642779_55642782del | NCBI36 |
| NG_012004.1:g.48740_48743del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3848+100_3848+103del MANE Select | ENSP00000263923.4:n.3848+100_3848+103del | |
| ENST00000647068.1:n.3861+100_3861+103del | ||
| ENST00000263923.4:c.3848+100_3848+103del | ENSP00000263923.4:n.3848+100_3848+103del | |
| NM_002253.2:c.3848+100_3848+103del | NP_002244.1:n.3848+100_3848+103del | |
| NM_002253.3:c.3848+100_3848+103del | NP_002244.1:n.3848+100_3848+103del | |
| NM_002253.4:c.3848+100_3848+103del MANE Select | NP_002244.1:n.3848+100_3848+103del |