Linked Data
ClinVar Variation Id:
228334
ClinVar RCV Id:
RCV000216627
dbSNP Id:
rs876657683
gnomAD v3:
9-34489393-TC-T
gnomAD v4:
9-34489393-TC-T
PubMed:
PMID:19675306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34489397del , CM000671.2:g.34489397del | GRCh38 |
| NC_000009.11:g.34489395del , CM000671.1:g.34489395del | GRCh37 |
| NC_000009.10:g.34479395del | NCBI36 |
| NG_008127.1:g.35585del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242317.9:c.336del MANE Select | ENSP00000242317.4:p.Asp114ThrfsTer14 | |
| ENST00000242317.8:c.336del | ENSP00000242317.4:p.Asp114ThrfsTer14 | |
| ENST00000437363.5:c.303del | ENSP00000395396.1:p.Asp103ThrfsTer14 | |
| ENST00000488369.1:n.452del | ||
| ENST00000614641.4:c.336del | ENSP00000480538.1:p.Asp114ThrfsTer14 | |
| NM_001281428.1:c.336del | NP_001268357.1:p.Asp114ThrfsTer14 | |
| NM_012144.3:c.336del | NP_036276.1:p.Asp114ThrfsTer14 | |
| XM_011517846.1:c.336del | XP_011516148.1:p.Asp114ThrfsTer14 | |
| XM_011517847.1:c.336del | XP_011516149.1:p.Asp114ThrfsTer14 | |
| XM_011517848.1:c.336del | XP_011516150.1:p.Asp114ThrfsTer14 | |
| XM_011517849.1:c.336del | XP_011516151.1:p.Asp114ThrfsTer14 | |
| XM_011517850.1:c.336del | XP_011516152.1:p.Asp114ThrfsTer14 | |
| XR_929232.1:n.590del | ||
| XR_929233.1:n.590del | ||
| XR_929235.1:n.590del | ||
| XM_006716758.3:c.-141del | XP_006716821.1:n.-141del | |
| XM_011517846.2:c.336del | XP_011516148.1:p.Asp114ThrfsTer14 | |
| XM_011517847.3:c.336del | XP_011516149.1:p.Asp114ThrfsTer14 | |
| XM_011517848.2:c.336del | XP_011516150.1:p.Asp114ThrfsTer14 | |
| XM_011517849.2:c.336del | XP_011516151.1:p.Asp114ThrfsTer14 | |
| XM_011517850.3:c.336del | XP_011516152.1:p.Asp114ThrfsTer14 | |
| XM_017014625.2:c.336del | XP_016870114.1:p.Asp114ThrfsTer14 | |
| XR_002956774.1:n.537del | ||
| XR_929232.2:n.537del | ||
| XR_929233.2:n.537del | ||
| NM_012144.4:c.336del MANE Select | NP_036276.1:p.Asp114ThrfsTer14 | |
| NM_001281428.2:c.336del | NP_001268357.1:p.Asp114ThrfsTer14 |