gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000759 (EAS)
Exomes Max Group AF
0.0000086 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651747del , CM000672.2:g.119651747del | GRCh38 |
| NC_000010.10:g.121411259del , CM000672.1:g.121411259del | GRCh37 |
| NC_000010.9:g.121401249del | NCBI36 |
| NG_016125.1:g.5378del , LRG_742:g.5378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.72del MANE Select | ENSP00000358081.4:p.Gly25AspfsTer? | |
| ENST00000369085.7:c.72del | ENSP00000358081.3:p.Gly25AspfsTer? | |
| NM_004281.3:c.72del , LRG_742t1:c.72del | NP_004272.2:p.Gly25AspfsTer? | |
| XM_005270287.1:c.72del | XP_005270344.1:p.Gly25AspfsTer? | |
| XM_005270287.2:c.72del | XP_005270344.1:p.Gly25AspfsTer? | |
| NM_004281.4:c.72del MANE Select | NP_004272.2:p.Gly25AspfsTer? |