Linked Data
ClinVar Variation Id:
8062
ClinVar RCV Id:
RCV000008528
dbSNP Id:
rs869312030
gnomAD v4:
18-59359155-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359159dup , CM000680.2:g.59359159dup | GRCh38 |
| NC_000018.9:g.57026391dup , CM000680.1:g.57026391dup | GRCh37 |
| NC_000018.8:g.55177371dup | NCBI36 |
| NG_012097.1:g.5121dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251047.6:c.89dup MANE Select | ENSP00000251047.4:p.Asp31ArgfsTer? | |
| ENST00000251047.5:c.89dup | ENSP00000251047.4:p.Asp31ArgfsTer? | |
| ENST00000587561.1:n.110dup | ||
| NM_005570.3:c.89dup | NP_005561.1:p.Asp31ArgfsTer? | |
| NM_005570.4:c.89dup MANE Select | NP_005561.1:p.Asp31ArgfsTer? |