Linked Data
ClinVar Variation Id:
824894
dbSNP Id:
rs1002286076
gnomAD v2:
11-61213480-CA-C
gnomAD v3:
11-61446008-CA-C
gnomAD v4:
11-61446008-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446013del , CM000673.2:g.61446013del | GRCh38 |
| NC_000011.9:g.61213485del , CM000673.1:g.61213485del | GRCh37 |
| NC_000011.8:g.60970061del | NCBI36 |
| NG_023393.1:g.20889del , LRG_519:g.20889del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.443del MANE Select | ENSP00000301761.3:p.Asn148ThrfsTer? | |
| ENST00000301761.6:c.443del | ENSP00000301761.2:p.Asn148ThrfsTer? | |
| ENST00000536670.5:n.396+7900del | ||
| ENST00000537782.5:c.*89del | ENSP00000469951.1:n.*89del | |
| ENST00000538594.5:c.370+7900del | ENSP00000440939.1:n.370+7900del | |
| ENST00000541135.5:c.377+7893del | ENSP00000443130.1:n.377+7893del | |
| ENST00000542074.1:c.*22del | ENSP00000469670.1:n.*22del | |
| ENST00000542794.5:c.*445del | ENSP00000439983.1:n.*445del | |
| ENST00000543044.2:c.407del | ENSP00000440219.1:p.Asn136ThrfsTer? | |
| ENST00000543265.1:c.*66del | ENSP00000443660.1:n.*66del | |
| ENST00000544025.5:n.465+7900del | ||
| ENST00000544801.5:c.370+7900del | ENSP00000442581.1:n.370+7900del | |
| ENST00000544880.1:n.374+7900del | ||
| NM_017841.2:c.443del , LRG_519t1:c.443del | NP_060311.1:p.Asn148ThrfsTer? | |
| NM_017841.4:c.443del MANE Select | NP_060311.1:p.Asn148ThrfsTer? |