Linked Data
ClinVar Variation Id:
2877185
ClinVar RCV Id:
RCV003626456
dbSNP Id:
rs755058564
ExAC:
16:47730281 A / AT
gnomAD v2:
16-47730281-A-AT
gnomAD v3:
16-47696370-A-AT
gnomAD v4:
16-47696370-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47696377dup , CM000678.2:g.47696377dup | GRCh38 |
| NC_000016.9:g.47730288dup , CM000678.1:g.47730288dup | GRCh37 |
| NC_000016.8:g.46287789dup | NCBI36 |
| NG_016598.1:g.240079dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*1470-4dup | ENSP00000512887.1:n.*1470-4dup | |
| ENST00000699276.1:c.*524-4dup | ENSP00000514257.1:n.*524-4dup | |
| ENST00000323584.10:c.2896-4dup MANE Select | ENSP00000313504.5:n.2896-4dup | |
| ENST00000299167.12:c.2896-4dup | ENSP00000299167.8:n.2896-4dup | |
| ENST00000323584.9:c.2896-4dup | ENSP00000313504.5:n.2896-4dup | |
| ENST00000566044.5:c.2875-4dup | ENSP00000456729.1:n.2875-4dup | |
| ENST00000566319.2:n.1712-4dup | ||
| NM_000293.2:c.2896-4dup | NP_000284.1:n.2896-4dup | |
| NM_001031835.2:c.2875-4dup | NP_001027005.1:n.2875-4dup | |
| XM_005255983.3:c.2896-4dup | XP_005256040.1:n.2896-4dup | |
| XM_005255984.3:c.2875-4dup | XP_005256041.1:n.2875-4dup | |
| XM_011523107.1:c.1474-4dup | XP_011521409.1:n.1474-4dup | |
| NM_001363837.1:c.2896-4dup | NP_001350766.1:n.2896-4dup | |
| XM_005255983.4:c.2896-4dup | XP_005256040.1:n.2896-4dup | |
| XM_005255984.4:c.2875-4dup | XP_005256041.1:n.2875-4dup | |
| XM_017023282.1:c.1783-4dup | XP_016878771.1:n.1783-4dup | |
| XM_017023283.1:c.1474-4dup | XP_016878772.1:n.1474-4dup | |
| XM_017023284.1:c.1474-4dup | XP_016878773.1:n.1474-4dup | |
| XR_001751913.1:n.2820-4dup | ||
| NM_000293.3:c.2896-4dup MANE Select | NP_000284.1:n.2896-4dup | |
| NM_001031835.3:c.2875-4dup | NP_001027005.1:n.2875-4dup |