Linked Data
ClinVar Variation Id:
433351
ClinVar RCV Id:
RCV002489228
dbSNP Id:
rs67791546
ExAC:
16:16248510 AC / A
gnomAD v2:
16-16248510-AC-A
gnomAD v3:
16-16154653-AC-A
gnomAD v4:
16-16154653-AC-A
PubMed:
PMID:12673275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154654del , CM000678.2:g.16154654del | GRCh38 |
| NC_000016.9:g.16248511del , CM000678.1:g.16248511del | GRCh37 |
| NC_000016.8:g.16156012del | NCBI36 |
| NG_007558.2:g.73818del | |
| NG_007558.3:g.73964del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.*354del | ENSP00000483331.2:n.*354del | |
| ENST00000205557.12:c.4182del MANE Select | ENSP00000205557.7:p.Lys1394AsnfsTer9 | |
| ENST00000640696.1:c.996del | ENSP00000492197.1:p.Lys332AsnfsTer9 | |
| ENST00000205557.11:c.4182del | ENSP00000205557.7:p.Lys1394AsnfsTer9 | |
| ENST00000456970.6:c.3807del | ENSP00000405002.2:n.3807del | |
| ENST00000576204.5:n.1045del | ||
| ENST00000622290.4:c.*1391del | ENSP00000483331.1:n.*1391del | |
| NM_001171.5:c.4182del | NP_001162.4:p.Lys1394AsnfsTer9 | |
| XM_011522479.1:c.4149del | XP_011520781.1:p.Lys1383AsnfsTer9 | |
| XM_011522480.1:c.3840del | XP_011520782.1:p.Lys1280AsnfsTer9 | |
| XM_011522481.1:c.3840del | XP_011520783.1:p.Lys1280AsnfsTer9 | |
| XR_933134.1:n.539-5127del | ||
| NM_001351800.1:c.3840del | NP_001338729.1:p.Lys1280AsnfsTer9 | |
| NR_147784.1:n.3844del | ||
| XM_011522479.2:c.4149del | XP_011520781.1:p.Lys1383AsnfsTer9 | |
| XM_011522481.3:c.3840del | XP_011520783.1:p.Lys1280AsnfsTer9 | |
| XM_017023212.1:c.4014del | XP_016878701.1:p.Lys1338AsnfsTer9 | |
| XM_024450261.1:c.4218del | XP_024306029.1:p.Lys1406AsnfsTer9 | |
| NM_001171.6:c.4182del MANE Select | NP_001162.5:p.Lys1394AsnfsTer9 |