ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671028del , CM000670.2:g.86671028del | GRCh38 |
| NC_000008.10:g.87683256del , CM000670.1:g.87683256del | GRCh37 |
| NC_000008.9:g.87752372del | NCBI36 |
| NG_016980.1:g.77651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.412del MANE Select | ENSP00000316605.5:p.Arg138GlufsTer14 | |
| ENST00000680314.1:n.173del | ||
| ENST00000681746.1:c.412del | ENSP00000505959.1:p.Arg138GlufsTer14 | |
| ENST00000320005.5:c.412del | ENSP00000316605.5:p.Arg138GlufsTer14 | |
| NM_019098.4:c.412del | NP_061971.3:p.Arg138GlufsTer14 | |
| XM_011517138.1:c.-3del | XP_011515440.1:n.-3del | |
| XM_011517138.2:c.-3del | XP_011515440.1:n.-3del | |
| NM_019098.5:c.412del MANE Select | NP_061971.3:p.Arg138GlufsTer14 |