Linked Data
ClinVar Variation Id:
9070
ClinVar RCV Id:
RCV000009637
dbSNP Id:
rs80356800
gnomAD v4:
11-68793333-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68793335del , CM000673.2:g.68793335del | GRCh38 |
| NC_000011.9:g.68560803del , CM000673.1:g.68560803del | GRCh37 |
| NC_000011.8:g.68317379del | NCBI36 |
| NG_011801.1:g.53598del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.948del MANE Select | ENSP00000265641.4:p.Ile317SerfsTer12 | |
| ENST00000265641.9:c.948del | ENSP00000265641.4:p.Ile317SerfsTer12 | |
| ENST00000376618.6:c.948del | ENSP00000365803.2:p.Ile317SerfsTer12 | |
| ENST00000538994.1:c.204del | ENSP00000454332.1:p.Ile69SerfsTer? | |
| ENST00000539743.5:c.948del | ENSP00000446108.1:p.Ile317SerfsTer12 | |
| ENST00000540367.5:c.948del | ENSP00000439084.1:p.Ile317SerfsTer12 | |
| NM_001031847.2:c.948del | NP_001027017.1:p.Ile317SerfsTer12 | |
| NM_001876.3:c.948del | NP_001867.2:p.Ile317SerfsTer12 | |
| XM_005273762.1:c.1044del | XP_005273819.1:p.Ile349SerfsTer12 | |
| XM_005273763.1:c.1044del | XP_005273820.1:p.Ile349SerfsTer12 | |
| XM_005273762.3:c.1044del | XP_005273819.1:p.Ile349SerfsTer12 | |
| XM_017017220.1:c.948del | XP_016872709.1:p.Ile317SerfsTer12 | |
| NM_001876.4:c.948del MANE Select | NP_001867.2:p.Ile317SerfsTer12 | |
| NM_001031847.3:c.948del | NP_001027017.1:p.Ile317SerfsTer12 |