gnomAD v4:
Joint Max Group AF
6.8e-7 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126615_42126625del , CM000684.2:g.42126615_42126625del | GRCh38 |
| NC_000022.10:g.42522617_42522627del , CM000684.1:g.42522617_42522627del | GRCh37 |
| NC_000022.9:g.40852561_40852571del | NCBI36 |
| NG_008376.3:g.8369_8379del | |
| NG_008376.4:g.9188_9198del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1243_1253del | ENSP00000353241.6:n.1243_1253del | |
| ENST00000645361.2:c.1445_1455del MANE Select | ENSP00000496150.1:p.Ala482GlufsTer6 | |
| ENST00000359033.4:c.1292_1302del | ENSP00000351927.4:p.Ala431GlufsTer6 | |
| ENST00000360124.9:c.1063_1073del | ENSP00000353241.5:n.1063_1073del | |
| ENST00000360608.9:c.1445_1455del | ENSP00000353820.5:p.Ala482GlufsTer6 | |
| ENST00000389970.7:c.1436_1446del | ENSP00000374620.4:p.Ala479GlufsTer6 | |
| ENST00000488442.1:n.2169_2179del | ||
| NM_000106.5:c.1445_1455del | NP_000097.3:p.Ala482GlufsTer6 | |
| NM_001025161.2:c.1292_1302del | NP_001020332.2:p.Ala431GlufsTer6 | |
| XM_011529966.1:c.1445_1452+3del | ||
| XM_011529967.1:c.1445_1452+3del | ||
| XM_011529968.1:c.1445_1452+3del | ||
| XM_011529969.1:c.1301_1308+3del | ||
| XM_011529970.1:c.1292_1299+3del | ||
| XM_011529971.1:c.1301_1311del | XP_011528273.1:p.Ala434GlufsTer6 | |
| NM_000106.6:c.1445_1455del MANE Select | NP_000097.3:p.Ala482GlufsTer6 | |
| NM_001025161.3:c.1292_1302del | NP_001020332.2:p.Ala431GlufsTer6 |