Linked Data
ClinVar Variation Id:
538707
dbSNP Id:
rs1555550717
gnomAD v3:
17-16972026-TG-T
gnomAD v4:
17-16972026-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16972028del , CM000679.2:g.16972028del | GRCh38 |
| NC_000017.10:g.16875342del , CM000679.1:g.16875342del | GRCh37 |
| NC_000017.9:g.16816067del | NCBI36 |
| NG_007281.1:g.5062del , LRG_120:g.5062del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261652.7:c.49del MANE Select | ENSP00000261652.2:p.Gln17ArgfsTer15 | |
| ENST00000261652.6:c.49del | ENSP00000261652.2:p.Gln17ArgfsTer15 | |
| ENST00000579315.5:c.49del | ENSP00000464069.1:p.Gln17ArgfsTer15 | |
| ENST00000581616.2:n.52del | ||
| ENST00000582931.5:n.91del | ||
| ENST00000583789.1:c.49del | ENSP00000462952.1:p.Gln17ArgfsTer21 | |
| ENST00000584950.5:c.49del | ENSP00000463582.1:p.Gln17ArgfsTer21 | |
| NM_012452.2:c.49del , LRG_120t1:c.49del | NP_036584.1:p.Gln17ArgfsTer15 | |
| NM_012452.3:c.49del MANE Select | NP_036584.1:p.Gln17ArgfsTer15 |