UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
39416
ClinVar RCV Id:
RCV000032592
dbSNP Id:
rs281865502
gnomAD v2:
16-66583956-C-CA
MyVariant Identifiers:
chr16:g.66583957dupA (hg19)
chr16:g.66583956_66583957insA (hg19)
chr16:g.66550054dupA (hg38)
chr16:g.66550053_66550054insA (hg38)
PubMed:
PMID:23230576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66550054dup , CM000678.2:g.66550054dup | GRCh38 |
| NC_000016.9:g.66583957dup , CM000678.1:g.66583957dup | GRCh37 |
| NC_000016.8:g.65141458dup | NCBI36 |
| NG_016862.1:g.5359dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.31+199dup | ENSP00000299697.9:n.31+199dup | |
| ENST00000417693.8:c.8dup | ENSP00000407469.5:p.Trp4ValfsTer? | |
| ENST00000451102.7:c.31+199dup | ENSP00000414334.4:n.31+199dup | |
| ENST00000544898.6:c.8dup MANE Select | ENSP00000440898.2:p.Trp4ValfsTer? | |
| ENST00000567357.6:c.8dup | ENSP00000457959.2:p.Trp4ValfsTer? | |
| ENST00000569718.6:c.31+199dup | ENSP00000464313.2:n.31+199dup | |
| ENST00000620035.5:c.8dup | ENSP00000483833.2:p.Trp4ValfsTer? | |
| ENST00000677420.1:c.-1158dup | ENSP00000504648.1:n.-1158dup | |
| ENST00000678015.1:c.-167-1045dup | ENSP00000502959.1:n.-167-1045dup | |
| ENST00000678297.1:c.-92-1045dup | ENSP00000503472.1:n.-92-1045dup | |
| ENST00000678314.1:c.-61+1486dup | ENSP00000504438.1:n.-61+1486dup | |
| ENST00000679327.1:n.51dup | ||
| ENST00000299697.11:c.8dup | ENSP00000299697.8:p.Trp4ValfsTer? | |
| ENST00000417693.7:c.134dup | ENSP00000407469.4:p.Trp46ValfsTer? | |
| ENST00000451102.6:c.134dup | ENSP00000414334.3:p.Trp46ValfsTer? | |
| ENST00000527284.5:c.31+199dup | ENSP00000435312.1:n.31+199dup | |
| ENST00000544898.5:c.8dup | ENSP00000440898.2:p.Trp4ValfsTer? | |
| ENST00000545043.6:c.8dup | ENSP00000438143.2:p.Trp4ValfsTer? | |
| ENST00000562484.2:c.-167-1045dup | ENSP00000463326.1:n.-167-1045dup | |
| ENST00000563478.5:c.-167-1045dup | ENSP00000462341.1:n.-167-1045dup | |
| ENST00000564917.5:c.8dup | ENSP00000455187.1:p.Trp4ValfsTer? | |
| ENST00000567357.5:c.134dup | ENSP00000457959.1:p.Trp46ValfsTer? | |
| ENST00000569718.5:c.18+199dup | ||
| ENST00000620035.4:c.8dup | ENSP00000483833.1:p.Trp4ValfsTer? | |
| NM_001172643.1:c.31+199dup | NP_001166114.1:n.31+199dup | |
| NM_001172644.1:c.8dup | NP_001166115.1:p.Trp4ValfsTer? | |
| NM_001172645.1:c.8dup | NP_001166116.1:p.Trp4ValfsTer? | |
| NM_001271934.1:c.-235dup | NP_001258863.1:n.-235dup | |
| NM_001271935.1:c.31+199dup | NP_001258864.1:n.31+199dup | |
| NM_004614.4:c.8dup | NP_004605.4:p.Trp4ValfsTer? | |
| NR_073520.1:n.359dup | ||
| NM_001172644.2:c.8dup | NP_001166115.1:p.Trp4ValfsTer? | |
| NM_001271934.2:c.-235dup | NP_001258863.1:n.-235dup | |
| NM_001272050.2:c.-645dup | NP_001258979.1:n.-645dup | |
| NM_004614.5:c.8dup MANE Select | NP_004605.4:p.Trp4ValfsTer? | |
| NR_073520.2:n.69dup | ||
| NM_001172645.2:c.8dup | NP_001166116.1:p.Trp4ValfsTer? |