Linked Data
ClinVar Variation Id:
523929
ClinVar RCV Id:
RCV000627407
dbSNP Id:
rs770988700
ExAC:
18:19348588 CT / C
gnomAD v2:
18-19348588-CT-C
gnomAD v4:
18-21768627-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21768628del , CM000680.2:g.21768628del | GRCh38 |
| NC_000018.9:g.19348589del , CM000680.1:g.19348589del | GRCh37 |
| NC_000018.8:g.17602587del | NCBI36 |
| NG_033272.2:g.68672del , LRG_759:g.68672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.407del MANE Select | ENSP00000261537.6:p.Leu136ArgfsTer2 | |
| ENST00000261537.6:c.407del | ENSP00000261537.6:p.Leu136ArgfsTer2 | |
| ENST00000578646.5:n.345del | ||
| NM_020774.3:c.407del , LRG_759t1:c.407del | NP_065825.1:p.Leu136ArgfsTer2 | |
| XR_935234.1:n.1198del | ||
| XR_935235.1:n.1198del | ||
| XM_017025874.1:c.407del | XP_016881363.1:p.Leu136ArgfsTer2 | |
| XM_017025875.1:c.407del | XP_016881364.1:p.Leu136ArgfsTer2 | |
| NM_020774.4:c.407del MANE Select | NP_065825.1:p.Leu136ArgfsTer2 |