gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000991 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49505892del , CM000672.2:g.49505892del | GRCh38 |
| NC_000010.10:g.50713938del , CM000672.1:g.50713938del | GRCh37 |
| NC_000010.9:g.50383944del | NCBI36 |
| NG_009442.1:g.38210del , LRG_465:g.38210del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1518del MANE Select | ENSP00000348089.5:p.Lys506AsnfsTer? | |
| ENST00000679811.1:n.1601del | ||
| ENST00000681632.1:n.1596del | ||
| ENST00000681659.1:c.1518del | ENSP00000505631.1:p.Lys506AsnfsTer12 | |
| ENST00000355832.9:c.1518del | ENSP00000348089.5:p.Lys506AsnfsTer? | |
| ENST00000475116.1:n.108del | ||
| ENST00000623073.3:c.-5269del | ENSP00000485650.1:n.-5269del | |
| ENST00000623788.1:n.517del | ||
| NM_000124.3:c.1518del | NP_000115.1:p.Lys506AsnfsTer? | |
| NM_001346440.1:c.1518del | NP_001333369.1:p.Lys506AsnfsTer? | |
| NM_000124.4:c.1518del MANE Select | NP_000115.1:p.Lys506AsnfsTer? | |
| NM_001346440.2:c.1518del | NP_001333369.1:p.Lys506AsnfsTer? |