gnomAD v4:
Joint Max Group AF
0.00000797 (AMR)
Exomes Max Group AF
0.00001259 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29510820_29510828del , CM000679.2:g.29510820_29510828del | GRCh38 |
| NC_000017.10:g.27837838_27837846del , CM000679.1:g.27837838_27837846del | GRCh37 |
| NC_000017.9:g.24861964_24861972del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.1576-44_1576-36del MANE Select | ENSP00000261716.3:n.1576-44_1576-36del | |
| ENST00000261716.7:c.1576-44_1576-36del | ENSP00000261716.3:n.1576-44_1576-36del | |
| ENST00000536202.1:c.1576-44_1576-36del | ENSP00000438819.1:n.1576-44_1576-36del | |
| ENST00000577583.1:n.1424-44_1424-36del | ||
| NM_020791.2:c.1576-44_1576-36del | NP_065842.1:n.1576-44_1576-36del | |
| NM_025142.1:c.1576-44_1576-36del | NP_079418.1:n.1576-44_1576-36del | |
| XM_011525060.1:c.1576-44_1576-36del | XP_011523362.1:n.1576-44_1576-36del | |
| XM_011525060.2:c.1576-44_1576-36del | XP_011523362.1:n.1576-44_1576-36del | |
| NM_020791.4:c.1576-44_1576-36del MANE Select | NP_065842.1:n.1576-44_1576-36del |