Linked Data
ClinVar Variation Id:
17788
ClinVar RCV Id:
RCV000019366
dbSNP Id:
rs587776851
gnomAD v4:
1-11846007-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11846008_11846009del , CM000663.2:g.11846008_11846009del | GRCh38 |
| NC_000001.10:g.11906065_11906066del , CM000663.1:g.11906065_11906066del | GRCh37 |
| NC_000001.9:g.11828652_11828653del | NCBI36 |
| NG_012926.1:g.6775_6776del , LRG_751:g.6775_6776del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1961+242_*1961+243del (CLCN6) | ENSP00000496938.1:n.*1961+242_*1961+243del | |
| ENST00000446542.5:n.781+242_781+243del (NPPA-AS1) | ||
| ENST00000376476.1:c.306_*1del (NPPA) | ENSP00000365659.1:n.[c.306_*1del;Ter102TrpextTer13] | |
| ENST00000376480.7:c.456_*1del (NPPA) MANE Select | ENSP00000365663.3:n.[c.456_*1del;Ter152TrpextTer13] | |
| ENST00000610706.1:c.454-1_454del (NPPA) | ||
| NM_006172.3:c.456_*1del , LRG_751t1:c.456_*1del (NPPA) | NP_006163.1:n.[c.456_*1del;Ter152TrpextTer13] | |
| NR_037806.1:n.1479+242_1479+243del (NPPA-AS1) | ||
| NM_006172.4:c.456_*1del (NPPA) MANE Select | NP_006163.1:n.[c.456_*1del;Ter152TrpextTer13] |