Linked Data
ClinVar Variation Id:
224873
ClinVar RCV Id:
RCV000210478
dbSNP Id:
rs398122884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437432_218437436del , CM000663.2:g.218437432_218437436del | GRCh38 |
| NC_000001.10:g.218610774_218610778del , CM000663.1:g.218610774_218610778del | GRCh37 |
| NC_000001.9:g.216677397_216677401del | NCBI36 |
| NG_027721.1:g.97099_97103del | |
| NG_027721.2:g.97099_97103del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366930.9:c.1022_1026del MANE Select | ENSP00000355897.4:p.Tyr341CysfsTer26 | |
| ENST00000366929.4:c.1106_1110del | ENSP00000355896.4:p.Tyr369CysfsTer26 | |
| ENST00000366930.8:c.1022_1026del | ENSP00000355897.4:p.Tyr341CysfsTer26 | |
| ENST00000479322.1:n.506_510del | ||
| NM_001135599.2:c.1106_1110del | NP_001129071.1:p.Tyr369CysfsTer26 | |
| NM_003238.3:c.1022_1026del | NP_003229.1:p.Tyr341CysfsTer26 | |
| NM_001135599.3:c.1106_1110del | NP_001129071.1:p.Tyr369CysfsTer26 | |
| NM_003238.4:c.1022_1026del | NP_003229.1:p.Tyr341CysfsTer26 | |
| NR_138148.1:n.2325_2329del | ||
| NR_138149.1:n.2409_2413del | ||
| NM_003238.5:c.1022_1026del | NP_003229.1:p.Tyr341CysfsTer26 | |
| NM_003238.6:c.1022_1026del MANE Select | NP_003229.1:p.Tyr341CysfsTer26 | |
| NM_001135599.4:c.1106_1110del | NP_001129071.1:p.Tyr369CysfsTer26 | |
| NR_138148.2:n.2273_2277del | ||
| NR_138149.2:n.2357_2361del |