Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11845812_11845814del , CM000663.2:g.11845812_11845814del | GRCh38 |
| NC_000001.10:g.11905869_11905871del , CM000663.1:g.11905869_11905871del | GRCh37 |
| NC_000001.9:g.11828456_11828458del | NCBI36 |
| NG_012926.1:g.6972_6974del , LRG_751:g.6972_6974del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1961+46_*1961+48del (CLCN6) | ENSP00000496938.1:n.*1961+46_*1961+48del | |
| ENST00000446542.5:n.781+46_781+48del (NPPA-AS1) | ||
| ENST00000376480.7:c.*197_*199del (NPPA) MANE Select | ENSP00000365663.3:n.*197_*199del | |
| ENST00000610706.1:c.*191_*193del (NPPA) | ENSP00000483195.1:n.*191_*193del | |
| NM_006172.3:c.*197_*199del , LRG_751t1:c.*197_*199del (NPPA) | NP_006163.1:n.*197_*199del | |
| NR_037806.1:n.1479+46_1479+48del (NPPA-AS1) | ||
| NM_006172.4:c.*197_*199del (NPPA) MANE Select | NP_006163.1:n.*197_*199del |