Linked Data
ClinVar Variation Id:
120310
ClinVar RCV Id:
RCV000106392
dbSNP Id:
rs281865165
ERepo:
CA267691/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912805del , CM000674.2:g.102912805del | GRCh38 |
| NC_000012.11:g.103306583del , CM000674.1:g.103306583del | GRCh37 |
| NC_000012.10:g.101830713del | NCBI36 |
| NG_008690.1:g.9799del | |
| NG_008690.2:g.50607del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.155del MANE Select | ENSP00000448059.1:p.Leu52CysfsTer9 | |
| ENST00000307000.7:c.140del | ENSP00000303500.2:p.Leu47CysfsTer9 | |
| ENST00000546844.1:c.155del | ENSP00000446658.1:p.Leu52CysfsTer9 | |
| ENST00000548677.2:n.242del | ||
| ENST00000548928.1:n.77del | ||
| ENST00000549111.5:n.251del | ||
| ENST00000550978.6:c.139del | ||
| ENST00000551337.5:c.155del | ENSP00000447620.1:p.Leu52CysfsTer9 | |
| ENST00000551988.5:n.244del | ||
| ENST00000553106.5:c.155del | ENSP00000448059.1:p.Leu52CysfsTer9 | |
| ENST00000635500.1:n.123del | ||
| NM_000277.1:c.155del | NP_000268.1:p.Leu52CysfsTer9 | |
| XM_011538422.1:c.155del | XP_011536724.1:p.Leu52CysfsTer9 | |
| NM_000277.2:c.155del | NP_000268.1:p.Leu52CysfsTer9 | |
| NM_001354304.1:c.155del | NP_001341233.1:p.Leu52CysfsTer9 | |
| XM_017019370.2:c.155del | XP_016874859.1:p.Leu52CysfsTer9 | |
| NM_000277.3:c.155del MANE Select | NP_000268.1:p.Leu52CysfsTer9 | |
| NM_001354304.2:c.155del | NP_001341233.1:p.Leu52CysfsTer9 |