Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178389del , CM000668.2:g.24178389del | GRCh38 |
| NC_000006.11:g.24178617del , CM000668.1:g.24178617del | GRCh37 |
| NC_000006.10:g.24286596del | NCBI36 |
| NG_012829.1:g.184664del | |
| NG_012829.2:g.209904del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1267del MANE Select | ENSP00000367715.3:p.Leu423PhefsTer5 | |
| ENST00000378450.6:c.526del | ENSP00000367711.3:p.Leu176PhefsTer5 | |
| ENST00000378454.7:c.1267del | ENSP00000367715.3:p.Leu423PhefsTer5 | |
| NM_001195610.1:c.1267del | NP_001182539.1:p.Leu423PhefsTer5 | |
| NM_016356.4:c.1267del | NP_057440.2:p.Leu423PhefsTer5 | |
| NM_016356.5:c.1267del MANE Select | NP_057440.2:p.Leu423PhefsTer5 | |
| NM_001195610.2:c.1267del | NP_001182539.1:p.Leu423PhefsTer5 |