Linked Data
ClinVar Variation Id:
38356
dbSNP Id:
rs267607267
gnomAD v4:
2-27311908-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27311913dup , CM000664.2:g.27311913dup | GRCh38 |
| NC_000002.11:g.27534781dup , CM000664.1:g.27534781dup | GRCh37 |
| NC_000002.10:g.27388285dup | NCBI36 |
| NG_008075.1:g.15655dup | |
| NG_033055.1:g.1354dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.451dup MANE Select | ENSP00000369383.1:p.Leu151ProfsTer? | |
| ENST00000233545.6:c.451dup | ENSP00000233545.2:p.Leu151ProfsTer? | |
| ENST00000357186.10:c.283dup | ENSP00000349713.6:p.Leu95ProfsTer? | |
| ENST00000380044.5:c.451dup | ENSP00000369383.1:p.Leu151ProfsTer? | |
| ENST00000402310.5:c.408+305dup | ENSP00000383955.1:n.408+305dup | |
| ENST00000402722.5:c.*40+585dup | ENSP00000386000.1:n.*40+585dup | |
| ENST00000403262.6:c.451dup | ENSP00000385671.1:p.Leu151ProfsTer18 | |
| ENST00000405076.5:c.262dup | ENSP00000385175.1:p.Leu88ProfsTer? | |
| ENST00000405983.5:c.496dup | ENSP00000384586.1:p.Leu166ProfsTer? | |
| ENST00000415514.5:c.*252dup | ENSP00000388043.1:n.*252dup | |
| ENST00000426513.6:c.*116dup | ENSP00000403824.2:n.*116dup | |
| ENST00000430991.5:c.285dup | ||
| ENST00000616707.1:n.1479dup | ||
| ENST00000620797.4:n.124dup | ||
| ENST00000621183.4:n.754dup | ||
| NM_002437.4:c.451dup | NP_002428.1:p.Leu151ProfsTer? | |
| XM_005264326.2:c.451dup | XP_005264383.1:p.Leu151ProfsTer? | |
| XM_005264327.2:c.292dup | XP_005264384.1:p.Leu98ProfsTer? | |
| XM_006712021.2:c.403dup | XP_006712084.1:p.Leu135ProfsTer? | |
| XM_005264326.4:c.451dup | XP_005264383.1:p.Leu151ProfsTer? | |
| XM_006712021.3:c.403dup | XP_006712084.1:p.Leu135ProfsTer? | |
| XM_017004150.1:c.433dup | XP_016859639.1:p.Leu145ProfsTer? | |
| XM_017004151.1:c.403dup | XP_016859640.1:p.Leu135ProfsTer? | |
| XM_017004152.1:c.292dup | XP_016859641.1:p.Leu98ProfsTer? | |
| XM_024452913.1:c.403dup | XP_024308681.1:p.Leu135ProfsTer? | |
| NM_002437.5:c.451dup MANE Select | NP_002428.1:p.Leu151ProfsTer? |