Linked Data
ClinVar Variation Id:
202536
ClinVar RCV Id:
RCV002519567
dbSNP Id:
rs752856716
ExAC:
2:179497076 T / TA
gnomAD v2:
2-179497076-T-TA
gnomAD v4:
2-178632349-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632350dup , CM000664.2:g.178632350dup | GRCh38 |
| NC_000002.11:g.179497077dup , CM000664.1:g.179497077dup | GRCh37 |
| NC_000002.10:g.179205322dup | NCBI36 |
| NG_011618.3:g.203453dup , LRG_391:g.203453dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.35840dup | ENSP00000343764.6:p.Phe11948IlefsTer8 | |
| ENST00000342175.11:c.16925dup | ENSP00000340554.6:p.Phe5643IlefsTer8 | |
| ENST00000359218.10:c.16724dup | ENSP00000352154.5:p.Phe5576IlefsTer8 | |
| ENST00000342175.10:c.16925dup | ENSP00000340554.6:p.Phe5643IlefsTer8 | |
| ENST00000342992.10:c.35840dup | ENSP00000343764.6:p.Phe11948IlefsTer8 | |
| ENST00000359218.9:c.16724dup | ENSP00000352154.5:p.Phe5576IlefsTer8 | |
| ENST00000460472.6:c.16349dup | ENSP00000434586.1:p.Phe5451IlefsTer8 | |
| ENST00000589042.5:c.43544dup MANE Select | ENSP00000467141.1:p.Phe14516IlefsTer8 | |
| ENST00000591111.5:c.38621dup | ENSP00000465570.1:p.Phe12875IlefsTer8 | |
| ENST00000615779.4:c.38621dup | ENSP00000483597.1:p.Phe12875IlefsTer8 | |
| NM_001256850.1:c.38621dup | NP_001243779.1:p.Phe12875IlefsTer8 | |
| NM_001267550.2:c.43544dup MANE Select | NP_001254479.2:p.Phe14516IlefsTer8 | |
| NM_003319.4:c.16349dup | NP_003310.4:p.Phe5451IlefsTer8 | |
| NM_133378.4:c.35840dup | NP_596869.4:p.Phe11948IlefsTer8 | |
| NM_133432.3:c.16724dup | NP_597676.3:p.Phe5576IlefsTer8 | |
| NM_133437.4:c.16925dup | NP_597681.4:p.Phe5643IlefsTer8 | |
| XM_011511729.1:c.42641dup | XP_011510031.1:p.Phe14215IlefsTer8 | |
| XM_011511730.1:c.16535dup | XP_011510032.1:p.Phe5513IlefsTer8 | |
| XM_011511731.1:c.16394dup | XP_011510033.1:p.Phe5466IlefsTer8 | |
| XM_017004819.1:c.42437dup | XP_016860308.1:p.Phe14147IlefsTer8 | |
| XM_017004820.1:c.37835dup | XP_016860309.1:p.Phe12613IlefsTer8 | |
| XM_017004821.1:c.37832dup | XP_016860310.1:p.Phe12612IlefsTer8 | |
| XM_017004822.1:c.34874dup | XP_016860311.1:p.Phe11626IlefsTer8 | |
| XM_017004823.1:c.16490dup | XP_016860312.1:p.Phe5498IlefsTer8 | |
| XM_024453094.1:c.37985dup | XP_024308862.1:p.Phe12663IlefsTer8 | |
| XM_024453095.1:c.37982dup | XP_024308863.1:p.Phe12662IlefsTer8 | |
| XM_024453096.1:c.37415dup | XP_024308864.1:p.Phe12473IlefsTer8 | |
| XM_024453097.1:c.34757dup | XP_024308865.1:p.Phe11587IlefsTer8 | |
| XM_024453098.1:c.34676dup | XP_024308866.1:p.Phe11560IlefsTer8 | |
| XM_024453099.1:c.16439dup | XP_024308867.1:p.Phe5481IlefsTer8 | |
| XM_024453100.1:c.6293dup | XP_024308868.1:p.Phe2099IlefsTer8 |