Linked Data
ClinVar Variation Id:
21443
dbSNP Id:
rs80359870
gnomAD v4:
X-49216484-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216488dup , CM000685.2:g.49216488dup | GRCh38 |
| NC_000023.10:g.49072948dup , CM000685.1:g.49072948dup | GRCh37 |
| NC_000023.9:g.48959892dup | NCBI36 |
| NG_009095.2:g.21882dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323022.10:c.3133dup MANE Select | ENSP00000321618.6:p.Leu1045ProfsTer11 | |
| ENST00000323022.9:c.3133dup | ENSP00000321618.5:p.Leu1045ProfsTer11 | |
| ENST00000376251.5:c.2971dup | ENSP00000365427.1:p.Leu991ProfsTer11 | |
| ENST00000376265.2:c.3166dup | ENSP00000365441.2:p.Leu1056ProfsTer11 | |
| NM_001256789.2:c.3133dup | NP_001243718.1:p.Leu1045ProfsTer11 | |
| NM_001256790.2:c.2971dup | NP_001243719.1:p.Leu991ProfsTer11 | |
| NM_005183.3:c.3166dup | NP_005174.2:p.Leu1056ProfsTer11 | |
| XM_011543983.1:c.2971dup | XP_011542285.1:p.Leu991ProfsTer11 | |
| XM_011543983.2:c.2971dup | XP_011542285.1:p.Leu991ProfsTer11 | |
| XM_017029836.1:c.400dup | XP_016885325.1:p.Leu134ProfsTer11 | |
| NM_001256789.3:c.3133dup MANE Select | NP_001243718.1:p.Leu1045ProfsTer11 | |
| NM_001256790.3:c.2971dup | NP_001243719.1:p.Leu991ProfsTer11 | |
| NM_005183.4:c.3166dup | NP_005174.2:p.Leu1056ProfsTer11 |