Linked Data
ClinVar Variation Id:
319576
ClinVar RCV Id:
RCV000385156
dbSNP Id:
rs551604859
gnomAD v2:
16-51169989-A-AC
gnomAD v3:
16-51136078-A-AC
gnomAD v4:
16-51136078-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51136085dup , CM000678.2:g.51136085dup | GRCh38 |
| NC_000016.9:g.51169996dup , CM000678.1:g.51169996dup | GRCh37 |
| NC_000016.8:g.49727497dup | NCBI36 |
| NG_007990.1:g.20194dup , LRG_674:g.20194dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440970.6:c.*1033dup | ENSP00000407914.2:n.*1033dup | |
| ENST00000685868.1:c.*1033dup | ENSP00000509873.1:n.*1033dup | |
| ENST00000251020.9:c.*1033dup MANE Select | ENSP00000251020.4:n.*1033dup | |
| ENST00000251020.8:c.*1033dup | ENSP00000251020.4:n.*1033dup | |
| ENST00000440970.5:c.*1033dup | ENSP00000407914.1:n.*1033dup | |
| NM_001127892.1:c.*1033dup | NP_001121364.1:n.*1033dup | |
| NM_002968.2:c.*1033dup , LRG_674t1:c.*1033dup | NP_002959.2:n.*1033dup | |
| XM_006721241.2:c.*1033dup | XP_006721304.1:n.*1033dup | |
| XM_011523254.1:c.*1033dup | XP_011521556.1:n.*1033dup | |
| XM_011523255.1:c.*1033dup | XP_011521557.1:n.*1033dup | |
| NM_002968.3:c.*1033dup MANE Select | NP_002959.2:n.*1033dup | |
| NM_001127892.2:c.*1033dup | NP_001121364.1:n.*1033dup |