Linked Data
dbSNP Id:
rs1553619937
COSMIC:
COSM17678
MyVariant Identifiers:
chr3:g.10188201del (hg19)
CIViC:
CA70049370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146517del , CM000665.2:g.10146517del | GRCh38 |
| NC_000003.11:g.10188201del , CM000665.1:g.10188201del | GRCh37 |
| NC_000003.10:g.10163201del | NCBI36 |
| NG_008212.3:g.9883del , LRG_322:g.9883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*21del | ENSP00000512434.1:n.*21del | |
| ENST00000696143.1:c.600-3270del | ENSP00000512435.1:n.600-3270del | |
| ENST00000696153.1:c.344del | ENSP00000512444.1:p.His115ProfsTer? | |
| ENST00000256474.3:c.344del MANE Select | ENSP00000256474.3:p.His115ProfsTer? | |
| ENST00000256474.2:c.344del | ENSP00000256474.2:p.His115ProfsTer? | |
| ENST00000345392.2:c.341-3270del | ENSP00000344757.2:n.341-3270del | |
| ENST00000477538.1:n.480del | ||
| NM_000551.3:c.344del , LRG_322t1:c.344del | NP_000542.1:p.His115ProfsTer? | |
| NM_198156.2:c.341-3270del | NP_937799.1:n.341-3270del | |
| XM_011534078.1:c.*21del | XP_011532380.1:n.*21del | |
| NM_001354723.1:c.*18-3270del | NP_001341652.1:n.*18-3270del | |
| NM_000551.4:c.344del MANE Select | NP_000542.1:p.His115ProfsTer? | |
| NM_001354723.2:c.*18-3270del | NP_001341652.1:n.*18-3270del | |
| NM_198156.3:c.341-3270del | NP_937799.1:n.341-3270del |