Linked Data
ClinVar Variation Id:
1657648
ClinVar RCV Id:
RCV002164434
dbSNP Id:
rs763492848
ExAC:
5:476117 GC / G
gnomAD v2:
5-476117-GC-G
gnomAD v3:
5-476002-GC-G
gnomAD v4:
5-476002-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.476003del , CM000667.2:g.476003del | GRCh38 |
| NC_000005.9:g.476118del , CM000667.1:g.476118del | GRCh37 |
| NC_000005.8:g.529118del | NCBI36 |
| NG_046804.1:g.99426del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.2140+17del (SLC9A3) MANE Select | ENSP00000264938.3:n.2140+17del | |
| ENST00000644203.1:c.2140+17del (SLC9A3) | ENSP00000495903.1:n.2140+17del | |
| ENST00000264938.7:c.2140+17del (SLC9A3) | ENSP00000264938.3:n.2140+17del | |
| ENST00000514375.1:c.2113+17del (SLC9A3) | ENSP00000422983.1:n.2113+17del | |
| NM_001284351.1:c.2113+17del (SLC9A3) | NP_001271280.1:n.2113+17del | |
| NM_004174.2:c.2140+17del (SLC9A3) | NP_004165.2:n.2140+17del | |
| NR_125375.1:n.348-229del (SLC9A3-AS1) | ||
| XM_011514095.1:c.2272del (SLC9A3) | XP_011512397.1:p.Ala758GlnfsTer? | |
| XM_011514096.1:c.2266del (SLC9A3) | XP_011512398.1:p.Ala756GlnfsTer? | |
| XM_011514097.1:c.2245del (SLC9A3) | XP_011512399.1:p.Ala749GlnfsTer? | |
| XM_011514098.1:c.2146+17del (SLC9A3) | XP_011512400.1:n.2146+17del | |
| NM_001284351.2:c.2113+17del (SLC9A3) | NP_001271280.1:n.2113+17del | |
| NM_004174.3:c.2140+17del (SLC9A3) | NP_004165.2:n.2140+17del | |
| NM_001284351.3:c.2113+17del (SLC9A3) | NP_001271280.1:n.2113+17del | |
| NM_004174.4:c.2140+17del (SLC9A3) MANE Select | NP_004165.2:n.2140+17del |