Linked Data
ClinVar Variation Id:
120274
ClinVar RCV Id:
RCV000106355
dbSNP Id:
rs281865428
ERepo:
CA267653/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894737del , CM000674.2:g.102894737del | GRCh38 |
| NC_000012.11:g.103288515del , CM000674.1:g.103288515del | GRCh37 |
| NC_000012.10:g.101812645del | NCBI36 |
| NG_008690.1:g.27866del | |
| NG_008690.2:g.68674del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.350del MANE Select | ENSP00000448059.1:p.Thr117LysfsTer? | |
| ENST00000307000.7:c.335del | ENSP00000303500.2:p.Thr112LysfsTer? | |
| ENST00000546844.1:c.350del | ENSP00000446658.1:p.Thr117LysfsTer? | |
| ENST00000548928.1:n.272del | ||
| ENST00000549111.5:n.446del | ||
| ENST00000550978.6:c.334del | ||
| ENST00000551337.5:c.350del | ENSP00000447620.1:p.Thr117LysfsTer? | |
| ENST00000551988.5:n.439del | ||
| ENST00000553106.5:c.350del | ENSP00000448059.1:p.Thr117LysfsTer? | |
| NM_000277.1:c.350del | NP_000268.1:p.Thr117LysfsTer? | |
| XM_011538422.1:c.350del | XP_011536724.1:p.Thr117LysfsTer? | |
| NM_000277.2:c.350del | NP_000268.1:p.Thr117LysfsTer? | |
| NM_001354304.1:c.350del | NP_001341233.1:p.Thr117LysfsTer? | |
| XM_017019370.2:c.350del | XP_016874859.1:p.Thr117LysfsTer? | |
| NM_000277.3:c.350del MANE Select | NP_000268.1:p.Thr117LysfsTer? | |
| NM_001354304.2:c.350del | NP_001341233.1:p.Thr117LysfsTer? |