Linked Data
ClinVar Variation Id:
126609
dbSNP Id:
rs180177102
ExAC:
16:23646274 CA / C
gnomAD v2:
16-23646274-CA-C
gnomAD v3:
16-23634953-CA-C
gnomAD v4:
16-23634953-CA-C
ERepo:
CA250432/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23634957del , CM000678.2:g.23634957del | GRCh38 |
| NC_000016.9:g.23646278del , CM000678.1:g.23646278del | GRCh37 |
| NC_000016.8:g.23553779del | NCBI36 |
| NG_007406.1:g.11404del , LRG_308:g.11404del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.1598del | ENSP00000460666.3:p.Leu533CysfsTer30 | |
| ENST00000565038.2:c.211+2896del | ENSP00000459882.2:n.211+2896del | |
| ENST00000566069.6:c.1592del | ENSP00000459237.2:p.Leu531CysfsTer30 | |
| ENST00000697377.2:c.1598del | ENSP00000513286.2:p.Leu533CysfsTer30 | |
| ENST00000697379.2:c.1598del | ENSP00000513287.2:p.Leu533CysfsTer30 | |
| ENST00000561514.2:c.707del | ENSP00000460666.2:p.Leu236CysfsTer30 | |
| ENST00000697374.1:c.707del | ENSP00000513284.1:p.Leu236CysfsTer30 | |
| ENST00000697375.1:n.2939del | ||
| ENST00000697376.1:c.707del | ENSP00000513285.1:p.Leu236CysfsTer30 | |
| ENST00000697377.1:c.707del | ENSP00000513286.1:p.Leu236CysfsTer30 | |
| ENST00000697378.1:n.2112del | ||
| ENST00000697379.1:c.707del | ENSP00000513287.1:p.Leu236CysfsTer30 | |
| ENST00000697382.1:c.707del | ENSP00000513288.1:p.Leu236CysfsTer30 | |
| ENST00000697383.1:c.49-5679del | ENSP00000513289.1:n.49-5679del | |
| ENST00000697384.1:n.1746del | ||
| ENST00000261584.9:c.1592del MANE Select | ENSP00000261584.4:p.Leu531CysfsTer30 | |
| ENST00000261584.8:c.1592del | ENSP00000261584.4:p.Leu531CysfsTer30 | |
| ENST00000565038.1:c.86+2896del | ||
| ENST00000568219.5:c.707del | ENSP00000454703.2:p.Leu236CysfsTer30 | |
| NM_024675.3:c.1592del , LRG_308t1:c.1592del | NP_078951.2:p.Leu531CysfsTer30 | |
| XM_011545946.1:c.1598del | XP_011544248.1:p.Leu533CysfsTer30 | |
| XM_011545947.1:c.1598del | XP_011544249.1:p.Leu533CysfsTer30 | |
| XM_011545948.1:c.707del | XP_011544250.1:p.Leu236CysfsTer30 | |
| XR_950851.1:n.2388del | ||
| XM_011545946.2:c.1598del | XP_011544248.1:p.Leu533CysfsTer30 | |
| XM_011545947.2:c.1598del | XP_011544249.1:p.Leu533CysfsTer30 | |
| XM_011545948.2:c.707del | XP_011544250.1:p.Leu236CysfsTer30 | |
| XM_017023671.1:c.1598del | XP_016879160.1:p.Leu533CysfsTer30 | |
| XM_017023672.2:c.1592del | XP_016879161.1:p.Leu531CysfsTer30 | |
| XM_017023673.2:c.1592del | XP_016879162.1:p.Leu531CysfsTer30 | |
| NM_024675.4:c.1592del MANE Select | NP_078951.2:p.Leu531CysfsTer30 |