Linked Data
ClinVar Variation Id:
805799
ClinVar RCV Id:
RCV000993594
dbSNP Id:
rs1592991243
ERepo:
CA16020714/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917119del , CM000674.2:g.102917119del | GRCh38 |
| NC_000012.11:g.103310897del , CM000674.1:g.103310897del | GRCh37 |
| NC_000012.10:g.101835027del | NCBI36 |
| NG_008690.1:g.5485del | |
| NG_008690.2:g.46293del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.13del MANE Select | ENSP00000448059.1:p.Val5SerfsTer? | |
| ENST00000307000.7:c.-135del | ENSP00000303500.2:n.-135del | |
| ENST00000546844.1:c.13del | ENSP00000446658.1:p.Val5SerfsTer? | |
| ENST00000547319.1:n.324del | ||
| ENST00000549111.5:n.109del | ||
| ENST00000551337.5:c.13del | ENSP00000447620.1:p.Val5SerfsTer? | |
| ENST00000551988.5:n.102del | ||
| ENST00000553106.5:c.13del | ENSP00000448059.1:p.Val5SerfsTer? | |
| ENST00000635500.1:n.29-4220del | ||
| NM_000277.1:c.13del | NP_000268.1:p.Val5SerfsTer? | |
| XM_011538422.1:c.13del | XP_011536724.1:p.Val5SerfsTer? | |
| NM_000277.2:c.13del | NP_000268.1:p.Val5SerfsTer? | |
| NM_001354304.1:c.13del | NP_001341233.1:p.Val5SerfsTer? | |
| XM_017019370.2:c.13del | XP_016874859.1:p.Val5SerfsTer? | |
| NM_000277.3:c.13del MANE Select | NP_000268.1:p.Val5SerfsTer? | |
| NM_001354304.2:c.13del | NP_001341233.1:p.Val5SerfsTer? |