Linked Data
ClinVar Variation Id:
1322086
ClinVar RCV Id:
RCV001780506
dbSNP Id:
rs756538708
ExAC:
7:143036399 GC / G
gnomAD v2:
7-143036399-GC-G
gnomAD v4:
7-143339306-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339308del , CM000669.2:g.143339308del | GRCh38 |
| NC_000007.13:g.143036401del , CM000669.1:g.143036401del | GRCh37 |
| NC_000007.12:g.142746523del | NCBI36 |
| NG_009815.1:g.28183del | |
| NG_009815.2:g.28183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1457del | ENSP00000498052.2:p.Pro486LeufsTer5 | |
| ENST00000343257.7:c.1457del MANE Select | ENSP00000339867.2:p.Pro486LeufsTer5 | |
| ENST00000432192.6:c.1281del | ||
| ENST00000343257.6:c.1457del | ENSP00000339867.2:p.Pro486LeufsTer5 | |
| NM_000083.2:c.1457del | NP_000074.2:p.Pro486LeufsTer5 | |
| NR_046453.1:n.1397del | ||
| XM_011515781.1:c.1481del | XP_011514083.1:p.Pro494LeufsTer5 | |
| XM_011515782.1:c.203del | XP_011514084.1:p.Pro68LeufsTer5 | |
| XM_011515782.2:c.203del | XP_011514084.1:p.Pro68LeufsTer5 | |
| XM_017011739.1:c.1031del | XP_016867228.1:p.Pro344LeufsTer5 | |
| XM_017011740.1:c.1007del | XP_016867229.1:p.Pro336LeufsTer5 | |
| NM_000083.3:c.1457del MANE Select | NP_000074.3:p.Pro486LeufsTer5 | |
| NR_046453.2:n.1412del |