gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169479558_169479561dup , CM000664.2:g.169479558_169479561dup | GRCh38 |
| NC_000002.11:g.170336068_170336071dup , CM000664.1:g.170336068_170336071dup | GRCh37 |
| NC_000002.10:g.170044314_170044317dup | NCBI36 |
| NG_011567.1:g.5063_5066dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.5_8dup MANE Select | ENSP00000295240.3:p.Leu4GlyfsTer30 | |
| ENST00000295240.7:c.5_8dup | ENSP00000295240.3:p.Leu4GlyfsTer30 | |
| ENST00000392663.6:c.5_8dup | ENSP00000376431.2:p.Leu4GlyfsTer30 | |
| ENST00000443151.1:c.5_8dup | ENSP00000406182.1:p.Leu4GlyfsTer30 | |
| ENST00000469980.1:n.79_82dup | ||
| ENST00000513963.1:c.5_8dup | ENSP00000424363.1:p.Leu4GlyfsTer30 | |
| NM_152384.2:c.5_8dup | NP_689597.1:p.Leu4GlyfsTer30 | |
| NM_152384.3:c.5_8dup MANE Select | NP_689597.1:p.Leu4GlyfsTer30 |