Linked Data
ClinVar Variation Id:
2582267
dbSNP Id:
rs1226865525
gnomAD v2:
13-48878057-CA-C
gnomAD v4:
13-48303921-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303925del , CM000675.2:g.48303925del | GRCh38 |
| NC_000013.10:g.48878061del , CM000675.1:g.48878061del | GRCh37 |
| NC_000013.9:g.47776062del | NCBI36 |
| NG_009009.1:g.5179del , LRG_517:g.5179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.13del MANE Select | ENSP00000267163.4:p.Thr5ProfsTer? | |
| ENST00000646097.1:c.13del | ENSP00000496556.1:p.Thr5ProfsTer? | |
| ENST00000650461.1:c.13del | ENSP00000497193.1:p.Thr5ProfsTer? | |
| ENST00000267163.4:c.13del | ENSP00000267163.4:p.Thr5ProfsTer? | |
| ENST00000467505.5:c.13del | ENSP00000434702.1:p.Thr5ProfsTer? | |
| ENST00000525036.1:n.175del | ||
| NM_000321.2:c.13del , LRG_517t1:c.13del | NP_000312.2:p.Thr5ProfsTer? | |
| NM_000321.3:c.13del MANE Select | NP_000312.2:p.Thr5ProfsTer? |