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:
208171
ClinVar RCV Id:
RCV000190367
dbSNP Id:
rs869320751
MyVariant Identifiers:
chr1:g.161761198dupG (hg19)
chr1:g.161761196_161761197insG (hg19)
chr1:g.161791408dupG (hg38)
PubMed:
PMID:26063662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161791408dup , CM000663.2:g.161791408dup | GRCh38 |
| NC_000001.10:g.161761198dup , CM000663.1:g.161761198dup | GRCh37 |
| NC_000001.9:g.160027822dup | NCBI36 |
| NG_029773.1:g.30165dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367942.4:c.355dup | ||
| ENST00000679833.1:c.355dup | ||
| ENST00000679853.1:c.355dup | ||
| ENST00000679886.1:c.83-10644dup | ENSP00000506559.1:n.83-10644dup | |
| ENST00000680180.1:n.395dup | ||
| ENST00000680462.1:c.355dup | ||
| ENST00000680481.1:c.248dup | ||
| ENST00000680633.1:c.157dup | ||
| ENST00000680688.1:c.355dup | ||
| ENST00000681001.1:c.*207dup | ||
| ENST00000681036.1:c.157dup | ||
| ENST00000681169.1:c.355dup | ||
| ENST00000681187.1:n.395dup | ||
| ENST00000681492.1:c.355dup | ||
| ENST00000681541.1:c.157dup | ||
| ENST00000681557.1:c.*156dup | ||
| ENST00000681738.1:c.355dup | ||
| ENST00000681779.1:n.405dup | ||
| ENST00000681801.1:c.355dup | ||
| ENST00000681912.1:c.-30dup | ||
| ENST00000367942.3:c.355dup | ||
| NM_007348.3:c.355dup | ||
| XM_006711224.1:c.355dup | ||
| XM_011509308.1:c.355dup | ||
| XM_011509309.1:c.355dup | ||
| XM_011509310.1:c.355dup | ||
| XM_011509310.2:c.355dup | ||
| NM_007348.4:c.355dup |