SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
190025
ClinVar RCV Id:
RCV000180981
dbSNP Id:
rs794726850
MyVariant Identifiers:
chr2:g.166850678_166850679dupCA (hg19)
chr2:g.166850677_166850678insCA (hg19)
chr2:g.165994168_165994169dupCA (hg38)
chr2:g.165994167_165994168insCA (hg38)
PubMed:
PMID:26096185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165994170_165994171dup , CM000664.2:g.165994170_165994171dup | GRCh38 |
| NC_000002.11:g.166850680_166850681dup , CM000664.1:g.166850680_166850681dup | GRCh37 |
| NC_000002.10:g.166558926_166558927dup | NCBI36 |
| NG_011906.1:g.84471_84472dup , LRG_8:g.84471_84472dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689288.1:c.*2865_*2866dup | ENSP00000509637.1:n.*2865_*2866dup | |
| ENST00000303395.9:c.4829_4830dup | ENSP00000303540.4:p.Val1611TrpfsTer8 | |
| ENST00000635750.1:c.4796_4797dup | ENSP00000490799.1:p.Val1600TrpfsTer8 | |
| ENST00000635776.1:c.4796_4797dup | ENSP00000490692.1:p.Val1600TrpfsTer8 | |
| ENST00000636194.1:c.*2322_*2323dup | ENSP00000490288.1:n.*2322_*2323dup | |
| ENST00000637038.1:c.1691_1692dup | ||
| ENST00000637988.1:c.4796_4797dup | ENSP00000490780.1:p.Val1600TrpfsTer8 | |
| ENST00000640036.1:c.4796_4797dup | ENSP00000491573.1:p.Val1600TrpfsTer8 | |
| ENST00000641575.1:c.4793_4794dup | ENSP00000492917.1:p.Val1599TrpfsTer8 | |
| ENST00000641603.1:c.4547_4548dup | ENSP00000492945.1:p.Val1517TrpfsTer8 | |
| ENST00000641996.1:c.*4383_*4384dup | ENSP00000493054.1:n.*4383_*4384dup | |
| ENST00000671940.1:c.*2772_*2773dup | ENSP00000500336.1:n.*2772_*2773dup | |
| ENST00000673490.1:n.7302_7303dup | ||
| ENST00000674923.1:c.4829_4830dup MANE Select | ENSP00000501589.1:p.Val1611TrpfsTer8 | |
| ENST00000303395.8:c.4829_4830dup | ENSP00000303540.4:p.Val1611TrpfsTer8 | |
| ENST00000375405.7:c.4796_4797dup | ENSP00000364554.3:p.Val1600TrpfsTer8 | |
| ENST00000409050.1:c.4745_4746dup | ENSP00000386312.1:p.Val1583TrpfsTer8 | |
| ENST00000423058.6:c.4829_4830dup | ENSP00000407030.2:p.Val1611TrpfsTer8 | |
| ENST00000625916.1:n.558_559dup | ||
| NM_001165963.1:c.4829_4830dup | NP_001159435.1:p.Val1611TrpfsTer8 | |
| NM_001165964.1:c.4745_4746dup | NP_001159436.1:p.Val1583TrpfsTer8 | |
| NM_001202435.1:c.4829_4830dup | NP_001189364.1:p.Val1611TrpfsTer8 | |
| NM_006920.4:c.4796_4797dup , LRG_8t1:c.4796_4797dup | NP_008851.3:p.Val1600TrpfsTer8 | |
| NR_110598.1:n.176-21443_176-21442dup | ||
| XM_011511598.1:c.4829_4830dup | XP_011509900.1:p.Val1611TrpfsTer8 | |
| XM_011511599.1:c.4829_4830dup | XP_011509901.1:p.Val1611TrpfsTer8 | |
| XM_011511600.1:c.4829_4830dup | XP_011509902.1:p.Val1611TrpfsTer8 | |
| XM_011511601.1:c.4829_4830dup | XP_011509903.1:p.Val1611TrpfsTer8 | |
| XM_011511602.1:c.4829_4830dup | XP_011509904.1:p.Val1611TrpfsTer8 | |
| XM_011511603.1:c.4826_4827dup | XP_011509905.1:p.Val1610TrpfsTer8 | |
| XM_011511604.1:c.4796_4797dup | XP_011509906.1:p.Val1600TrpfsTer8 | |
| XM_011511605.1:c.4793_4794dup | XP_011509907.1:p.Val1599TrpfsTer8 | |
| XM_011511606.1:c.4745_4746dup | XP_011509908.1:p.Val1583TrpfsTer8 | |
| XM_011511607.1:c.4547_4548dup | XP_011509909.1:p.Val1517TrpfsTer8 | |
| NM_001165963.2:c.4829_4830dup | NP_001159435.1:p.Val1611TrpfsTer8 | |
| NM_001165964.2:c.4745_4746dup | NP_001159436.1:p.Val1583TrpfsTer8 | |
| NM_001202435.2:c.4829_4830dup | NP_001189364.1:p.Val1611TrpfsTer8 | |
| NM_001353948.1:c.4829_4830dup | NP_001340877.1:p.Val1611TrpfsTer8 | |
| NM_001353949.1:c.4796_4797dup | NP_001340878.1:p.Val1600TrpfsTer8 | |
| NM_001353950.1:c.4796_4797dup | NP_001340879.1:p.Val1600TrpfsTer8 | |
| NM_001353951.1:c.4796_4797dup | NP_001340880.1:p.Val1600TrpfsTer8 | |
| NM_001353952.1:c.4796_4797dup | NP_001340881.1:p.Val1600TrpfsTer8 | |
| NM_001353954.1:c.4793_4794dup | NP_001340883.1:p.Val1599TrpfsTer8 | |
| NM_001353955.1:c.4793_4794dup | NP_001340884.1:p.Val1599TrpfsTer8 | |
| NM_001353957.1:c.4745_4746dup | NP_001340886.1:p.Val1583TrpfsTer8 | |
| NM_001353958.1:c.4745_4746dup | NP_001340887.1:p.Val1583TrpfsTer8 | |
| NM_001353960.1:c.4742_4743dup | NP_001340889.1:p.Val1582TrpfsTer8 | |
| NM_001353961.1:c.2387_2388dup | NP_001340890.1:p.Val797TrpfsTer8 | |
| NM_006920.5:c.4796_4797dup | NP_008851.3:p.Val1600TrpfsTer8 | |
| NR_148667.1:n.5265_5266dup | ||
| XR_001738883.1:n.5279_5280dup | ||
| XR_001738884.1:n.5251_5252dup | ||
| NM_001165963.3:c.4829_4830dup | NP_001159435.1:p.Val1611TrpfsTer8 | |
| NM_001165964.3:c.4745_4746dup | NP_001159436.1:p.Val1583TrpfsTer8 | |
| NM_001202435.3:c.4829_4830dup | NP_001189364.1:p.Val1611TrpfsTer8 | |
| NM_001353948.2:c.4829_4830dup | NP_001340877.1:p.Val1611TrpfsTer8 | |
| NM_001353949.2:c.4796_4797dup | NP_001340878.1:p.Val1600TrpfsTer8 | |
| NM_001353950.2:c.4796_4797dup | NP_001340879.1:p.Val1600TrpfsTer8 | |
| NM_001353951.2:c.4796_4797dup | NP_001340880.1:p.Val1600TrpfsTer8 | |
| NM_001353952.2:c.4796_4797dup | NP_001340881.1:p.Val1600TrpfsTer8 | |
| NM_001353954.2:c.4793_4794dup | NP_001340883.1:p.Val1599TrpfsTer8 | |
| NM_001353955.2:c.4793_4794dup | NP_001340884.1:p.Val1599TrpfsTer8 | |
| NM_001353957.2:c.4745_4746dup | NP_001340886.1:p.Val1583TrpfsTer8 | |
| NM_001353958.2:c.4745_4746dup | NP_001340887.1:p.Val1583TrpfsTer8 | |
| NM_001353960.2:c.4742_4743dup | NP_001340889.1:p.Val1582TrpfsTer8 | |
| NM_001353961.2:c.2387_2388dup | NP_001340890.1:p.Val797TrpfsTer8 | |
| NM_006920.6:c.4796_4797dup | NP_008851.3:p.Val1600TrpfsTer8 | |
| NR_148667.2:n.5246_5247dup | ||
| NM_001165963.4:c.4829_4830dup MANE Select | NP_001159435.1:p.Val1611TrpfsTer8 |