gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26480990del , CM000664.2:g.26480990del | GRCh38 |
| NC_000002.11:g.26703858del , CM000664.1:g.26703858del | GRCh37 |
| NC_000002.10:g.26557362del | NCBI36 |
| NG_009937.1:g.82711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1601del MANE Select | ENSP00000272371.2:p.Pro534GlnfsTer4 | |
| ENST00000272371.6:c.1601del | ENSP00000272371.2:p.Pro534GlnfsTer4 | |
| ENST00000403946.7:c.1601del | ENSP00000385255.3:p.Pro534GlnfsTer4 | |
| NM_001287489.1:c.1601del | NP_001274418.1:p.Pro534GlnfsTer4 | |
| NM_194248.2:c.1601del | NP_919224.1:p.Pro534GlnfsTer4 | |
| XM_005264644.2:c.1646del | XP_005264701.1:p.Pro549GlnfsTer4 | |
| XM_011533185.1:c.1646del | XP_011531487.1:p.Pro549GlnfsTer4 | |
| XM_017005338.1:c.1601del | XP_016860827.1:p.Pro534GlnfsTer4 | |
| NM_001287489.2:c.1601del | NP_001274418.1:p.Pro534GlnfsTer4 | |
| NM_194248.3:c.1601del MANE Select | NP_919224.1:p.Pro534GlnfsTer4 |