gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415235del , CM000676.2:g.23415235del | GRCh38 |
| NC_000014.8:g.23884444del , CM000676.1:g.23884444del | GRCh37 |
| NC_000014.7:g.22954284del | NCBI36 |
| NG_007884.1:g.25428del , LRG_384:g.25428del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5320del MANE Select | ENSP00000347507.3:p.Asp1774ThrfsTer9 | |
| ENST00000355349.3:c.5320del | ENSP00000347507.3:p.Asp1774ThrfsTer9 | |
| NM_000257.3:c.5320del | NP_000248.2:p.Asp1774ThrfsTer9 | |
| XM_017021340.1:c.5320del | XP_016876829.1:p.Asp1774ThrfsTer9 | |
| NM_000257.4:c.5320del MANE Select | NP_000248.2:p.Asp1774ThrfsTer9 |