gnomAD v2:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57551317del , CM000680.2:g.57551317del | GRCh38 |
| NC_000018.9:g.55218549del , CM000680.1:g.55218549del | GRCh37 |
| NC_000018.8:g.53369547del | NCBI36 |
| NG_008175.1:g.40422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262093.11:c.1136del MANE Select | ENSP00000262093.6:p.Lys379ArgfsTer21 | |
| ENST00000382873.8:c.920del | ENSP00000372326.4:p.Lys307ArgfsTer21 | |
| ENST00000651787.1:n.1242del | ||
| ENST00000652755.1:c.1154del | ENSP00000498358.1:p.Lys385ArgfsTer21 | |
| ENST00000262093.9:c.1136del | ENSP00000262093.5:p.Lys379ArgfsTer21 | |
| ENST00000382873.7:c.1154del | ENSP00000372326.3:p.Lys385ArgfsTer21 | |
| ENST00000585494.5:c.*863del | ENSP00000465243.1:n.*863del | |
| ENST00000591977.5:c.403del | ||
| NM_000140.3:c.1136del | NP_000131.2:p.Lys379ArgfsTer21 | |
| NM_001012515.2:c.1154del | NP_001012533.1:p.Lys385ArgfsTer21 | |
| XM_011525881.1:c.1055del | XP_011524183.1:p.Lys352ArgfsTer21 | |
| XM_011525882.1:c.920del | XP_011524184.1:p.Lys307ArgfsTer21 | |
| NM_000140.4:c.1136del | NP_000131.2:p.Lys379ArgfsTer21 | |
| NM_001012515.3:c.1154del | NP_001012533.1:p.Lys385ArgfsTer21 | |
| XM_011525882.2:c.920del | XP_011524184.1:p.Lys307ArgfsTer21 | |
| XM_017025614.2:c.1037del | XP_016881103.1:p.Lys346ArgfsTer21 | |
| NM_000140.5:c.1136del MANE Select | NP_000131.2:p.Lys379ArgfsTer21 | |
| NM_001012515.4:c.1154del | NP_001012533.1:p.Lys385ArgfsTer21 | |
| NM_001371094.1:c.1037del | NP_001358023.1:p.Lys346ArgfsTer21 | |
| NM_001371095.1:c.920del | NP_001358024.1:p.Lys307ArgfsTer21 | |
| NM_001374778.1:c.1078-470del | NP_001361707.1:n.1078-470del |