Linked Data
ClinVar Variation Id:
493324
ClinVar RCV Id:
RCV000585082
dbSNP Id:
rs1555888493
gnomAD v4:
21-43776256-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43776260del , CM000683.2:g.43776260del | GRCh38 |
| NC_000021.8:g.45196141del , CM000683.1:g.45196141del | GRCh37 |
| NC_000021.7:g.44020569del | NCBI36 |
| NG_011545.1:g.5122del , LRG_485:g.5122del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291568.7:c.13del MANE Select | ENSP00000291568.6:p.Ala5ArgfsTer19 | |
| ENST00000480147.3:n.12del | ||
| ENST00000640406.1:c.13del | ENSP00000492672.1:p.Ala5ArgfsTer19 | |
| ENST00000675996.1:n.74del | ||
| ENST00000291568.5:c.13del | ENSP00000291568.5:p.Ala5ArgfsTer19 | |
| ENST00000480147.1:n.50del | ||
| NM_000100.3:c.13del , LRG_485t1:c.13del | NP_000091.1:p.Ala5ArgfsTer19 | |
| NM_000100.4:c.13del MANE Select | NP_000091.1:p.Ala5ArgfsTer19 |