Linked Data
ClinVar Variation Id:
43601
dbSNP Id:
rs397516442
MyVariant Identifiers:
chr3:g.10188265del (hg19)
chr3:g.10188263del (hg19)
chr3:g.10146581del (hg38)
ERepo:
CA020343/MONDO:0008667/078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146581del , CM000665.2:g.10146581del | GRCh38 |
| NC_000003.11:g.10188265del , CM000665.1:g.10188265del | GRCh37 |
| NC_000003.10:g.10163265del | NCBI36 |
| NG_008212.3:g.9947del , LRG_322:g.9947del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*85del | ENSP00000512434.1:n.*85del | |
| ENST00000696143.1:c.600-3206del | ENSP00000512435.1:n.600-3206del | |
| ENST00000696153.1:c.408del | ENSP00000512444.1:p.Phe136LeufsTer? | |
| ENST00000256474.3:c.408del MANE Select | ENSP00000256474.3:p.Phe136LeufsTer23 | |
| ENST00000256474.2:c.408del | ENSP00000256474.2:p.Phe136LeufsTer23 | |
| ENST00000345392.2:c.341-3206del | ENSP00000344757.2:n.341-3206del | |
| ENST00000477538.1:n.544del | ||
| NM_000551.3:c.408del , LRG_322t1:c.408del | NP_000542.1:p.Phe136LeufsTer23 | |
| NM_198156.2:c.341-3206del | NP_937799.1:n.341-3206del | |
| XM_011534078.1:c.*85del | XP_011532380.1:n.*85del | |
| NM_001354723.1:c.*18-3206del | NP_001341652.1:n.*18-3206del | |
| NM_000551.4:c.408del MANE Select | NP_000542.1:p.Phe136LeufsTer23 | |
| NM_001354723.2:c.*18-3206del | NP_001341652.1:n.*18-3206del | |
| NM_198156.3:c.341-3206del | NP_937799.1:n.341-3206del |