Linked Data
ClinVar Variation Id:
18397
ClinVar RCV Id:
RCV000000010
dbSNP Id:
rs587776507
gnomAD v4:
1-159205718-CCCTGGCTGGCCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159205725_159205738del , CM000663.2:g.159205725_159205738del | GRCh38 |
| NC_000001.10:g.159175515_159175528del , CM000663.1:g.159175515_159175528del | GRCh37 |
| NC_000001.9:g.157442139_157442152del | NCBI36 |
| NG_011626.1:g.6006_6019del | |
| NG_011626.3:g.6713_6726del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368121.6:c.292_305del | ENSP00000357103.2:p.Trp98ThrfsTer22 | |
| ENST00000368122.4:c.286_299del MANE Select | ENSP00000357104.1:p.Trp96ThrfsTer22 | |
| ENST00000435307.2:n.467_480del | ||
| ENST00000368121.3:c.292_305del | ENSP00000357103.2:p.Trp98ThrfsTer22 | |
| ENST00000368122.2:c.286_299del | ENSP00000357104.1:p.Trp96ThrfsTer22 | |
| ENST00000435307.1:c.292_305del | ENSP00000398406.1:p.Trp98ThrfsTer22 | |
| ENST00000537147.5:c.286_299del | ENSP00000441985.1:p.Trp96ThrfsTer22 | |
| NM_001122951.2:c.292_305del | NP_001116423.1:p.Trp98ThrfsTer22 | |
| NM_002036.3:c.286_299del | NP_002027.2:p.Trp96ThrfsTer22 | |
| NM_002036.4:c.286_299del MANE Select | NP_002027.2:p.Trp96ThrfsTer22 | |
| NM_001122951.3:c.292_305del | NP_001116423.1:p.Trp98ThrfsTer22 |