Linked Data
ClinVar Variation Id:
216904
dbSNP Id:
rs863224858
ExAC:
1:16382218 AC / A
gnomAD v2:
1-16382218-AC-A
gnomAD v3:
1-16055723-AC-A
gnomAD v4:
1-16055723-AC-A
MyVariant Identifiers:
chr1:g.16382221del (hg19)
chr1:g.16382219del (hg19)
chr1:g.16055726del (hg38)
chr1:g.16055724del (hg38)
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055726del , CM000663.2:g.16055726del | GRCh38 |
| NC_000001.10:g.16382221del , CM000663.1:g.16382221del | GRCh37 |
| NC_000001.9:g.16254808del | NCBI36 |
| NG_013079.1:g.16975del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682338.1:c.1897del | ENSP00000507062.1:p.Leu633Ter | |
| ENST00000682793.1:c.1897del | ENSP00000506910.1:p.Leu633Ter | |
| ENST00000682838.1:c.*1636del | ENSP00000507652.1:n.*1636del | |
| ENST00000683578.1:c.1894del | ENSP00000507430.1:p.Leu632Ter | |
| ENST00000683606.1:n.1500del | ||
| ENST00000683661.1:n.3432del | ||
| ENST00000684324.1:c.1897del | ENSP00000507937.1:p.Leu633Ter | |
| ENST00000684545.1:c.1897del | ENSP00000506733.1:p.Leu633Ter | |
| ENST00000684624.1:n.1274del | ||
| ENST00000684714.1:c.*117del | ENSP00000506861.1:n.*117del | |
| ENST00000684731.1:n.1224del | ||
| ENST00000375679.9:c.1897del MANE Select | ENSP00000364831.5:p.Leu633Ter | |
| ENST00000375667.7:c.1387del | ENSP00000364819.3:p.Leu463Ter | |
| ENST00000375679.8:c.1897del | ENSP00000364831.4:p.Leu633Ter | |
| ENST00000431772.1:c.361del | ENSP00000389344.1:p.Leu121Ter | |
| ENST00000619181.4:c.1294-1461del | ENSP00000483866.1:n.1294-1461del | |
| NM_000085.4:c.1897del | NP_000076.2:p.Leu633Ter | |
| NM_001165945.2:c.1387del | NP_001159417.2:p.Leu463Ter | |
| XM_011540619.1:c.1738del | XP_011538921.1:p.Leu580Ter | |
| XM_011540621.1:c.1246del | XP_011538923.1:p.Leu416Ter | |
| NM_000085.5:c.1897del MANE Select | NP_000076.2:p.Leu633Ter |