Linked Data
ClinVar Variation Id:
953371
ClinVar RCV Id:
RCV001225655
dbSNP Id:
rs1209079089
gnomAD v3:
3-10141982-GGAGGAACTGGGCGCCGAGGAGGA-G
gnomAD v4:
3-10141982-GGAGGAACTGGGCGCCGAGGAGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141985_10142007del , CM000665.2:g.10141985_10142007del | GRCh38 |
| NC_000003.11:g.10183669_10183691del , CM000665.1:g.10183669_10183691del | GRCh37 |
| NC_000003.10:g.10158669_10158691del | NCBI36 |
| NG_008212.3:g.5351_5373del , LRG_322:g.5351_5373del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.138_160del | ENSP00000512434.1:p.Glu46AspfsTer? | |
| ENST00000696143.1:c.138_160del | ENSP00000512435.1:p.Glu46AspfsTer? | |
| ENST00000696153.1:c.138_160del | ENSP00000512444.1:p.Glu46AspfsTer? | |
| ENST00000256474.3:c.138_160del MANE Select | ENSP00000256474.3:p.Glu46AspfsTer? | |
| ENST00000256474.2:c.138_160del | ENSP00000256474.2:p.Glu46AspfsTer? | |
| ENST00000345392.2:c.138_160del | ENSP00000344757.2:p.Glu46AspfsTer? | |
| NM_000551.3:c.138_160del , LRG_322t1:c.138_160del | NP_000542.1:p.Glu46AspfsTer? | |
| NM_198156.2:c.138_160del | NP_937799.1:p.Glu46AspfsTer? | |
| XM_011534078.1:c.138_160del | XP_011532380.1:p.Glu46AspfsTer? | |
| NM_001354723.1:c.138_160del | NP_001341652.1:p.Glu46AspfsTer? | |
| NM_000551.4:c.138_160del MANE Select | NP_000542.1:p.Glu46AspfsTer? | |
| NM_001354723.2:c.138_160del | NP_001341652.1:p.Glu46AspfsTer? | |
| NM_198156.3:c.138_160del | NP_937799.1:p.Glu46AspfsTer? |