gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028014 (AFR)
Exomes Max Group AF
0.00088427 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367197_38367201del , CM000685.2:g.38367197_38367201del | GRCh38 |
| NC_000023.10:g.38226450_38226454del , CM000685.1:g.38226450_38226454del | GRCh37 |
| NC_000023.9:g.38111394_38111398del | NCBI36 |
| NG_008471.1:g.19715_19719del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.78-94_78-90del MANE Select | ENSP00000039007.4:n.78-94_78-90del | |
| ENST00000643344.1:c.78-94_78-90del | ENSP00000496606.1:n.78-94_78-90del | |
| ENST00000039007.4:c.78-94_78-90del | ENSP00000039007.4:n.78-94_78-90del | |
| ENST00000465127.1:c.172-298924_172-298920del | ENSP00000417050.1:n.172-298924_172-298920del | |
| ENST00000488812.1:n.170-94_170-90del | ||
| NM_000531.5:c.78-94_78-90del | NP_000522.3:n.78-94_78-90del | |
| XM_017029556.1:c.78-94_78-90del | XP_016885045.1:n.78-94_78-90del | |
| NM_000531.6:c.78-94_78-90del MANE Select | NP_000522.3:n.78-94_78-90del |