Linked Data
ClinVar Variation Id:
843241
ClinVar RCV Id:
RCV001045814
dbSNP Id:
rs1420441572
gnomAD v2:
3-10184522-CAG-C
gnomAD v3:
3-10142838-CAG-C
gnomAD v4:
3-10142838-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142840_10142841del , CM000665.2:g.10142840_10142841del | GRCh38 |
| NC_000003.11:g.10184524_10184525del , CM000665.1:g.10184524_10184525del | GRCh37 |
| NC_000003.10:g.10159524_10159525del | NCBI36 |
| NG_008212.3:g.6206_6207del , LRG_322:g.6206_6207del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.418_419del | ENSP00000512434.1:p.Asp140CysfsTer? | |
| ENST00000696143.1:c.418_419del | ENSP00000512435.1:p.Asp140CysfsTer? | |
| ENST00000696153.1:c.340+653_340+654del | ENSP00000512444.1:n.340+653_340+654del | |
| ENST00000256474.3:c.340+653_340+654del MANE Select | ENSP00000256474.3:n.340+653_340+654del | |
| ENST00000256474.2:c.340+653_340+654del | ENSP00000256474.2:n.340+653_340+654del | |
| ENST00000345392.2:c.340+653_340+654del | ENSP00000344757.2:n.340+653_340+654del | |
| ENST00000477538.1:n.295_296del | ||
| NM_000551.3:c.340+653_340+654del , LRG_322t1:c.340+653_340+654del | NP_000542.1:n.340+653_340+654del | |
| NM_198156.2:c.340+653_340+654del | NP_937799.1:n.340+653_340+654del | |
| XM_011534078.1:c.418_419del | XP_011532380.1:p.Asp140CysfsTer? | |
| NM_001354723.1:c.418_419del | NP_001341652.1:p.Asp140CysfsTer? | |
| NM_000551.4:c.340+653_340+654del MANE Select | NP_000542.1:n.340+653_340+654del | |
| NM_001354723.2:c.418_419del | NP_001341652.1:p.Asp140CysfsTer? | |
| NM_198156.3:c.340+653_340+654del | NP_937799.1:n.340+653_340+654del |