gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241500534del , CM000663.2:g.241500534del | GRCh38 |
| NC_000001.10:g.241663834del , CM000663.1:g.241663834del | GRCh37 |
| NC_000001.9:g.239730457del | NCBI36 |
| NG_012338.1:g.24221del , LRG_504:g.24221del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1796del | ||
| ENST00000682162.1:c.1322del | ENSP00000508203.1:n.1322del | |
| ENST00000682567.1:n.4693del | ||
| ENST00000683521.1:c.1293del | ENSP00000506864.1:p.Glu432LysfsTer17 | |
| ENST00000684161.1:n.2508del | ||
| ENST00000684483.1:c.*689del | ENSP00000507894.1:n.*689del | |
| ENST00000366560.4:c.1293del MANE Select | ENSP00000355518.4:p.Glu432LysfsTer17 | |
| ENST00000366560.3:c.1293del | ENSP00000355518.3:p.Glu432LysfsTer17 | |
| NM_000143.3:c.1293del , LRG_504t1:c.1293del | NP_000134.2:p.Glu432LysfsTer17 | |
| XM_011544132.1:c.1065del | XP_011542434.1:p.Glu356LysfsTer17 | |
| XM_011544132.2:c.1065del | XP_011542434.1:p.Glu356LysfsTer17 | |
| NM_000143.4:c.1293del MANE Select | NP_000134.2:p.Glu432LysfsTer17 |