Linked Data
ClinVar Variation Id:
319575
ClinVar RCV Id:
RCV000327970
dbSNP Id:
rs551203456
gnomAD v2:
16-51169910-C-CA
gnomAD v3:
16-51135999-C-CA
gnomAD v4:
16-51135999-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51136007dup , CM000678.2:g.51136007dup | GRCh38 |
| NC_000016.9:g.51169918dup , CM000678.1:g.51169918dup | GRCh37 |
| NC_000016.8:g.49727419dup | NCBI36 |
| NG_007990.1:g.20273dup , LRG_674:g.20273dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685868.1:c.*1112dup | ENSP00000509873.1:n.*1112dup | |
| ENST00000251020.9:c.*1112dup MANE Select | ENSP00000251020.4:n.*1112dup | |
| ENST00000251020.8:c.*1112dup | ENSP00000251020.4:n.*1112dup | |
| ENST00000440970.5:c.*1112dup | ENSP00000407914.1:n.*1112dup | |
| NM_001127892.1:c.*1112dup | NP_001121364.1:n.*1112dup | |
| NM_002968.2:c.*1112dup , LRG_674t1:c.*1112dup | NP_002959.2:n.*1112dup | |
| XM_006721241.2:c.*1112dup | XP_006721304.1:n.*1112dup | |
| XM_011523254.1:c.*1112dup | XP_011521556.1:n.*1112dup | |
| XM_011523255.1:c.*1112dup | XP_011521557.1:n.*1112dup | |
| NM_002968.3:c.*1112dup MANE Select | NP_002959.2:n.*1112dup | |
| NM_001127892.2:c.*1112dup | NP_001121364.1:n.*1112dup |