gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015982 (EAS)
Genomes Max Group AF
0.00015691 (EAS)
Exomes Max Group AF
0.00012316 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408220_190408228del , CM000665.2:g.190408220_190408228del | GRCh38 |
| NC_000003.11:g.190126009_190126017del , CM000665.1:g.190126009_190126017del | GRCh37 |
| NC_000003.10:g.191608703_191608711del | NCBI36 |
| NG_008149.1:g.25169_25177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.383-94_383-86del MANE Select | ENSP00000264734.3:n.383-94_383-86del | |
| ENST00000456423.2:c.115-1683_115-1675del | ENSP00000414136.2:n.115-1683_115-1675del | |
| ENST00000264734.2:c.593-94_593-86del | ENSP00000264734.2:n.593-94_593-86del | |
| ENST00000456423.1:c.325-1683_325-1675del | ENSP00000414136.1:n.325-1683_325-1675del | |
| NM_006580.3:c.593-94_593-86del | NP_006571.1:n.593-94_593-86del | |
| NM_001378492.1:c.383-94_383-86del | NP_001365421.1:n.383-94_383-86del | |
| NM_001378493.1:c.383-94_383-86del | NP_001365422.1:n.383-94_383-86del | |
| NM_006580.4:c.383-94_383-86del MANE Select | NP_006571.2:n.383-94_383-86del |