gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027675 (EAS)
Exomes Max Group AF
0.00029335 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11846069_11846070del , CM000663.2:g.11846069_11846070del | GRCh38 |
| NC_000001.10:g.11906126_11906127del , CM000663.1:g.11906126_11906127del | GRCh37 |
| NC_000001.9:g.11828713_11828714del | NCBI36 |
| NG_012926.1:g.6714_6715del , LRG_751:g.6714_6715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1961+303_*1961+304del (CLCN6) | ENSP00000496938.1:n.*1961+303_*1961+304del | |
| ENST00000446542.5:n.781+303_781+304del (NPPA-AS1) | ||
| ENST00000376476.1:c.301-56_301-55del (NPPA) | ENSP00000365659.1:n.301-56_301-55del | |
| ENST00000376480.7:c.451-56_451-55del (NPPA) MANE Select | ENSP00000365663.3:n.451-56_451-55del | |
| ENST00000610706.1:c.451-56_451-55del (NPPA) | ENSP00000483195.1:n.451-56_451-55del | |
| NM_006172.3:c.451-56_451-55del , LRG_751t1:c.451-56_451-55del (NPPA) | NP_006163.1:n.451-56_451-55del | |
| NR_037806.1:n.1479+303_1479+304del (NPPA-AS1) | ||
| NM_006172.4:c.451-56_451-55del (NPPA) MANE Select | NP_006163.1:n.451-56_451-55del |