WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
189898
ClinVar RCV Id:
RCV000180850
dbSNP Id:
rs794726741
MyVariant Identifiers:
chr2:g.166848433_166848436dupGACC (hg19)
chr2:g.166848432_166848433insGACC (hg19)
chr2:g.165991923_165991926dupGACC (hg38)
chr2:g.165991922_165991923insGACC (hg38)
PubMed:
PMID:26096185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165991924_165991927dup , CM000664.2:g.165991924_165991927dup | GRCh38 |
| NC_000002.11:g.166848434_166848437dup , CM000664.1:g.166848434_166848437dup | GRCh37 |
| NC_000002.10:g.166556680_166556683dup | NCBI36 |
| NG_011906.1:g.86714_86717dup , LRG_8:g.86714_86717dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689288.1:c.*3385_*3388dup | ENSP00000509637.1:n.*3385_*3388dup | |
| ENST00000303395.9:c.5349_5352dup | ENSP00000303540.4:p.Ile1785GlyfsTer11 | |
| ENST00000635750.1:c.5316_5319dup | ENSP00000490799.1:p.Ile1774GlyfsTer11 | |
| ENST00000635776.1:c.*2182_*2185dup | ENSP00000490692.1:n.*2182_*2185dup | |
| ENST00000636194.1:c.*2842_*2845dup | ENSP00000490288.1:n.*2842_*2845dup | |
| ENST00000637038.1:c.2211_2214dup | ||
| ENST00000637988.1:c.5316_5319dup | ENSP00000490780.1:p.Ile1774GlyfsTer11 | |
| ENST00000640036.1:c.5316_5319dup | ENSP00000491573.1:p.Ile1774GlyfsTer11 | |
| ENST00000641575.1:c.5313_5316dup | ENSP00000492917.1:p.Ile1773GlyfsTer11 | |
| ENST00000641603.1:c.5067_5070dup | ENSP00000492945.1:p.Ile1691GlyfsTer11 | |
| ENST00000641996.1:c.*4903_*4906dup | ENSP00000493054.1:n.*4903_*4906dup | |
| ENST00000671940.1:c.*3292_*3295dup | ENSP00000500336.1:n.*3292_*3295dup | |
| ENST00000673490.1:n.7822_7825dup | ||
| ENST00000674923.1:c.5349_5352dup MANE Select | ENSP00000501589.1:p.Ile1785GlyfsTer11 | |
| ENST00000303395.8:c.5349_5352dup | ENSP00000303540.4:p.Ile1785GlyfsTer11 | |
| ENST00000375405.7:c.5316_5319dup | ENSP00000364554.3:p.Ile1774GlyfsTer11 | |
| ENST00000409050.1:c.5265_5268dup | ENSP00000386312.1:p.Ile1757GlyfsTer11 | |
| ENST00000423058.6:c.5349_5352dup | ENSP00000407030.2:p.Ile1785GlyfsTer11 | |
| NM_001165963.1:c.5349_5352dup | NP_001159435.1:p.Ile1785GlyfsTer11 | |
| NM_001165964.1:c.5265_5268dup | NP_001159436.1:p.Ile1757GlyfsTer11 | |
| NM_001202435.1:c.5349_5352dup | NP_001189364.1:p.Ile1785GlyfsTer11 | |
| NM_006920.4:c.5316_5319dup , LRG_8t1:c.5316_5319dup | NP_008851.3:p.Ile1774GlyfsTer11 | |
| NR_110598.1:n.176-23689_176-23686dup | ||
| XM_011511598.1:c.5349_5352dup | XP_011509900.1:p.Ile1785GlyfsTer11 | |
| XM_011511599.1:c.5349_5352dup | XP_011509901.1:p.Ile1785GlyfsTer11 | |
| XM_011511600.1:c.5349_5352dup | XP_011509902.1:p.Ile1785GlyfsTer11 | |
| XM_011511601.1:c.5349_5352dup | XP_011509903.1:p.Ile1785GlyfsTer11 | |
| XM_011511602.1:c.5349_5352dup | XP_011509904.1:p.Ile1785GlyfsTer11 | |
| XM_011511603.1:c.5346_5349dup | XP_011509905.1:p.Ile1784GlyfsTer11 | |
| XM_011511604.1:c.5316_5319dup | XP_011509906.1:p.Ile1774GlyfsTer11 | |
| XM_011511605.1:c.5313_5316dup | XP_011509907.1:p.Ile1773GlyfsTer11 | |
| XM_011511606.1:c.5265_5268dup | XP_011509908.1:p.Ile1757GlyfsTer11 | |
| XM_011511607.1:c.5067_5070dup | XP_011509909.1:p.Ile1691GlyfsTer11 | |
| NM_001165963.2:c.5349_5352dup | NP_001159435.1:p.Ile1785GlyfsTer11 | |
| NM_001165964.2:c.5265_5268dup | NP_001159436.1:p.Ile1757GlyfsTer11 | |
| NM_001202435.2:c.5349_5352dup | NP_001189364.1:p.Ile1785GlyfsTer11 | |
| NM_001353948.1:c.5349_5352dup | NP_001340877.1:p.Ile1785GlyfsTer11 | |
| NM_001353949.1:c.5316_5319dup | NP_001340878.1:p.Ile1774GlyfsTer11 | |
| NM_001353950.1:c.5316_5319dup | NP_001340879.1:p.Ile1774GlyfsTer11 | |
| NM_001353951.1:c.5316_5319dup | NP_001340880.1:p.Ile1774GlyfsTer11 | |
| NM_001353952.1:c.5316_5319dup | NP_001340881.1:p.Ile1774GlyfsTer11 | |
| NM_001353954.1:c.5313_5316dup | NP_001340883.1:p.Ile1773GlyfsTer11 | |
| NM_001353955.1:c.5313_5316dup | NP_001340884.1:p.Ile1773GlyfsTer11 | |
| NM_001353957.1:c.5265_5268dup | NP_001340886.1:p.Ile1757GlyfsTer11 | |
| NM_001353958.1:c.5265_5268dup | NP_001340887.1:p.Ile1757GlyfsTer11 | |
| NM_001353960.1:c.5262_5265dup | NP_001340889.1:p.Ile1756GlyfsTer11 | |
| NM_001353961.1:c.2907_2910dup | NP_001340890.1:p.Ile971GlyfsTer11 | |
| NM_006920.5:c.5316_5319dup | NP_008851.3:p.Ile1774GlyfsTer11 | |
| NR_148667.1:n.5785_5788dup | ||
| XR_001738883.1:n.5799_5802dup | ||
| XR_001738884.1:n.5771_5774dup | ||
| NM_001165963.3:c.5349_5352dup | NP_001159435.1:p.Ile1785GlyfsTer11 | |
| NM_001165964.3:c.5265_5268dup | NP_001159436.1:p.Ile1757GlyfsTer11 | |
| NM_001202435.3:c.5349_5352dup | NP_001189364.1:p.Ile1785GlyfsTer11 | |
| NM_001353948.2:c.5349_5352dup | NP_001340877.1:p.Ile1785GlyfsTer11 | |
| NM_001353949.2:c.5316_5319dup | NP_001340878.1:p.Ile1774GlyfsTer11 | |
| NM_001353950.2:c.5316_5319dup | NP_001340879.1:p.Ile1774GlyfsTer11 | |
| NM_001353951.2:c.5316_5319dup | NP_001340880.1:p.Ile1774GlyfsTer11 | |
| NM_001353952.2:c.5316_5319dup | NP_001340881.1:p.Ile1774GlyfsTer11 | |
| NM_001353954.2:c.5313_5316dup | NP_001340883.1:p.Ile1773GlyfsTer11 | |
| NM_001353955.2:c.5313_5316dup | NP_001340884.1:p.Ile1773GlyfsTer11 | |
| NM_001353957.2:c.5265_5268dup | NP_001340886.1:p.Ile1757GlyfsTer11 | |
| NM_001353958.2:c.5265_5268dup | NP_001340887.1:p.Ile1757GlyfsTer11 | |
| NM_001353960.2:c.5262_5265dup | NP_001340889.1:p.Ile1756GlyfsTer11 | |
| NM_001353961.2:c.2907_2910dup | NP_001340890.1:p.Ile971GlyfsTer11 | |
| NM_006920.6:c.5316_5319dup | NP_008851.3:p.Ile1774GlyfsTer11 | |
| NR_148667.2:n.5766_5769dup | ||
| NM_001165963.4:c.5349_5352dup MANE Select | NP_001159435.1:p.Ile1785GlyfsTer11 |