Linked Data
ClinVar Variation Id:
133146
dbSNP Id:
rs193922745
ERepo:
CA024489/MONDO:0018493/012
PubMed:
PMID:16732084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38440750_38440752del , CM000681.2:g.38440750_38440752del | GRCh38 |
| NC_000019.9:g.38931390_38931392del , CM000681.1:g.38931390_38931392del | GRCh37 |
| NC_000019.8:g.43623230_43623232del | NCBI36 |
| NG_008866.1:g.12051_12053del , LRG_766:g.12051_12053del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.51_53del | ENSP00000471601.2:p.Asp17del | |
| ENST00000359596.8:c.51_53del MANE Select | ENSP00000352608.2:p.Asp17del | |
| ENST00000355481.8:c.51_53del | ENSP00000347667.3:p.Asp17del | |
| ENST00000359596.7:c.51_53del | ENSP00000352608.2:p.Asp17del | |
| ENST00000360985.7:c.51_53del | ENSP00000354254.4:p.Asp17del | |
| NM_000540.2:c.51_53del , LRG_766t1:c.51_53del | NP_000531.2:p.Asp17del | |
| NM_001042723.1:c.51_53del | NP_001036188.1:p.Asp17del | |
| XM_006723317.1:c.51_53del | XP_006723380.1:p.Asp17del | |
| XM_006723319.1:c.51_53del | XP_006723382.1:p.Asp17del | |
| XM_011527204.1:c.51_53del | XP_011525506.1:p.Asp17del | |
| XM_011527205.1:c.51_53del | XP_011525507.1:p.Asp17del | |
| XM_006723317.2:c.51_53del | XP_006723380.1:p.Asp17del | |
| XM_006723319.2:c.51_53del | XP_006723382.1:p.Asp17del | |
| XM_011527205.2:c.51_53del | XP_011525507.1:p.Asp17del | |
| XR_001753735.1:n.134_136del | ||
| NM_000540.3:c.51_53del MANE Select | NP_000531.2:p.Asp17del | |
| NM_001042723.2:c.51_53del | NP_001036188.1:p.Asp17del |