Linked Data
ClinVar Variation Id:
369968
ClinVar RCV Id:
RCV000408763
dbSNP Id:
rs1057516207
gnomAD v2:
1-16378287-C-CA
gnomAD v4:
1-16051792-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16051793dup , CM000663.2:g.16051793dup | GRCh38 |
| NC_000001.10:g.16378288dup , CM000663.1:g.16378288dup | GRCh37 |
| NC_000001.9:g.16250875dup | NCBI36 |
| NG_013079.1:g.13042dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682338.1:c.1381dup | ENSP00000507062.1:p.Ile461AsnfsTer? | |
| ENST00000682793.1:c.1381dup | ENSP00000506910.1:p.Ile461AsnfsTer? | |
| ENST00000682838.1:c.*1123dup | ENSP00000507652.1:n.*1123dup | |
| ENST00000683578.1:c.1381dup | ENSP00000507430.1:p.Ile461AsnfsTer? | |
| ENST00000683606.1:n.996dup | ||
| ENST00000683661.1:n.2916dup | ||
| ENST00000684324.1:c.1381dup | ENSP00000507937.1:p.Ile461AsnfsTer? | |
| ENST00000684545.1:c.1381dup | ENSP00000506733.1:p.Ile461AsnfsTer? | |
| ENST00000684624.1:n.758dup | ||
| ENST00000684714.1:c.1381dup | ENSP00000506861.1:p.Ile461AsnfsTer? | |
| ENST00000684731.1:n.842dup | ||
| ENST00000375679.9:c.1381dup MANE Select | ENSP00000364831.5:p.Ile461AsnfsTer? | |
| ENST00000375667.7:c.874dup | ENSP00000364819.3:p.Ile292AsnfsTer? | |
| ENST00000375679.8:c.1381dup | ENSP00000364831.4:p.Ile461AsnfsTer? | |
| ENST00000619181.4:c.1000dup | ENSP00000483866.1:p.Ile334AsnfsTer? | |
| NM_000085.4:c.1381dup | NP_000076.2:p.Ile461AsnfsTer? | |
| NM_001165945.2:c.874dup | NP_001159417.2:p.Ile292AsnfsTer? | |
| XM_011540619.1:c.1222dup | XP_011538921.1:p.Ile408AsnfsTer? | |
| XM_011540620.1:c.1381dup | XP_011538922.1:p.Ile461AsnfsTer? | |
| XM_011540621.1:c.730dup | XP_011538923.1:p.Ile244AsnfsTer? | |
| NM_000085.5:c.1381dup MANE Select | NP_000076.2:p.Ile461AsnfsTer? |