Linked Data
ClinVar Variation Id:
1366790
ClinVar RCV Id:
RCV001944853
dbSNP Id:
rs1481052479
gnomAD v3:
1-11847669-TGGA-T
gnomAD v4:
1-11847669-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11847671_11847673del , CM000663.2:g.11847671_11847673del | GRCh38 |
| NC_000001.10:g.11907728_11907730del , CM000663.1:g.11907728_11907730del | GRCh37 |
| NC_000001.9:g.11830315_11830317del | NCBI36 |
| NG_012926.1:g.5112_5114del , LRG_751:g.5112_5114del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*2056_*2058del (CLCN6) | ENSP00000496938.1:n.*2056_*2058del | |
| ENST00000446542.5:n.1019_1021del (NPPA-AS1) | ||
| ENST00000376476.1:c.-27-233_-27-231del (NPPA) | ENSP00000365659.1:n.-27-233_-27-231del | |
| ENST00000376480.7:c.13_15del (NPPA) MANE Select | ENSP00000365663.3:p.Ser5del | |
| ENST00000610706.1:c.13_15del (NPPA) | ENSP00000483195.1:p.Ser5del | |
| NM_006172.3:c.13_15del , LRG_751t1:c.13_15del (NPPA) | NP_006163.1:p.Ser5del | |
| NM_006172.4:c.13_15del (NPPA) MANE Select | NP_006163.1:p.Ser5del |