Linked Data
ClinVar Variation Id:
1506607
ClinVar RCV Id:
RCV002036037
dbSNP Id:
rs776061068
gnomAD v2:
X-25025365-GGCGGCGGCGGCA-G
gnomAD v4:
X-25007248-GGCGGCGGCGGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007254_25007265del , CM000685.2:g.25007254_25007265del | GRCh38 |
| NC_000023.10:g.25025371_25025382del , CM000685.1:g.25025371_25025382del | GRCh37 |
| NC_000023.9:g.24935292_24935303del | NCBI36 |
| NG_008281.1:g.13689_13700del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1299_1310del MANE Select | ENSP00000368332.4:p.Ala434_Ala437del | |
| ENST00000379044.4:c.1299_1310del | ENSP00000368332.4:p.Ala434_Ala437del | |
| NM_139058.2:c.1299_1310del | NP_620689.1:p.Ala434_Ala437del | |
| NM_139058.3:c.1299_1310del MANE Select | NP_620689.1:p.Ala434_Ala437del |