Linked Data
ClinVar Variation Id:
428811
dbSNP Id:
rs1131690964
MyVariant Identifiers:
chr3:g.10183809del (hg19)
chr3:g.10183808del (hg19)
chr3:g.10142125del (hg38)
CIViC:
CA432420500
PubMed:
PMID:7977367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142125del , CM000665.2:g.10142125del | GRCh38 |
| NC_000003.11:g.10183809del , CM000665.1:g.10183809del | GRCh37 |
| NC_000003.10:g.10158809del | NCBI36 |
| NG_008212.3:g.5491del , LRG_322:g.5491del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.278del | ENSP00000512434.1:p.Gly93AlafsTer24 | |
| ENST00000696143.1:c.278del | ENSP00000512435.1:p.Gly93AlafsTer24 | |
| ENST00000696153.1:c.278del | ENSP00000512444.1:p.Gly93AlafsTer? | |
| ENST00000256474.3:c.278del MANE Select | ENSP00000256474.3:p.Gly93AlafsTer? | |
| ENST00000256474.2:c.278del | ENSP00000256474.2:p.Gly93AlafsTer? | |
| ENST00000345392.2:c.278del | ENSP00000344757.2:p.Gly93AlafsTer25 | |
| NM_000551.3:c.278del , LRG_322t1:c.278del | NP_000542.1:p.Gly93AlafsTer? | |
| NM_198156.2:c.278del | NP_937799.1:p.Gly93AlafsTer25 | |
| XM_011534078.1:c.278del | XP_011532380.1:p.Gly93AlafsTer24 | |
| NM_001354723.1:c.278del | NP_001341652.1:p.Gly93AlafsTer24 | |
| NM_000551.4:c.278del MANE Select | NP_000542.1:p.Gly93AlafsTer? | |
| NM_001354723.2:c.278del | NP_001341652.1:p.Gly93AlafsTer24 | |
| NM_198156.3:c.278del | NP_937799.1:p.Gly93AlafsTer25 |