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:
54571
ClinVar RCV Id:
RCV000577165
dbSNP Id:
rs397508969
PubMed:
PMID:19329713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093090_43093091insT , CM000679.2:g.43093090_43093091insT | GRCh38 |
| NC_000017.10:g.41245107_41245108insT , CM000679.1:g.41245107_41245108insT | GRCh37 |
| NC_000017.9:g.38498633_38498634insT | NCBI36 |
| NG_005905.2:g.124893_124894insA , LRG_292:g.124893_124894insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.2504_2505insA | ||
| ENST00000461574.2:c.2440_2441insA | ENSP00000417241.2:p.Leu814HisfsTer9 | |
| ENST00000470026.6:c.2440_2441insA | ENSP00000419274.2:p.Leu814HisfsTer9 | |
| ENST00000473961.6:c.2314_2315insA | ENSP00000420201.2:p.Leu772HisfsTer9 | |
| ENST00000476777.6:c.2437_2438insA | ENSP00000417554.2:p.Leu813HisfsTer9 | |
| ENST00000477152.6:c.2362_2363insA | ENSP00000419988.2:p.Leu788HisfsTer9 | |
| ENST00000478531.6:c.784+1653_784+1654insA | ENSP00000420412.2:n.784+1653_784+1654insA | |
| ENST00000489037.2:c.2362_2363insA | ENSP00000420781.2:p.Leu788HisfsTer9 | |
| ENST00000493919.6:c.646+1653_646+1654insA | ENSP00000418819.2:n.646+1653_646+1654insA | |
| ENST00000494123.6:c.2440_2441insA | ENSP00000419103.2:p.Leu814HisfsTer9 | |
| ENST00000497488.2:c.1552_1553insA | ENSP00000418986.2:p.Leu518HisfsTer9 | |
| ENST00000618469.2:c.2440_2441insA | ENSP00000478114.2:p.Leu814HisfsTer9 | |
| ENST00000634433.2:c.2317_2318insA | ENSP00000489431.2:p.Leu773HisfsTer9 | |
| ENST00000644379.2:c.2440_2441insA | ENSP00000496570.2:p.Leu814HisfsTer9 | |
| ENST00000644555.2:c.646+1653_646+1654insA | ENSP00000494614.2:n.646+1653_646+1654insA | |
| ENST00000652672.2:c.2299_2300insA | ENSP00000498906.2:p.Leu767HisfsTer9 | |
| ENST00000484087.6:c.664+1653_664+1654insA | ENSP00000419481.2:n.664+1653_664+1654insA | |
| ENST00000700182.1:c.706+1653_706+1654insA | ENSP00000514849.1:n.706+1653_706+1654insA | |
| ENST00000357654.9:c.2440_2441insA MANE Select | ENSP00000350283.3:p.Leu814HisfsTer9 | |
| ENST00000471181.7:c.2440_2441insA | ENSP00000418960.2:p.Leu814HisfsTer9 | |
| ENST00000352993.7:c.671-2059_671-2058insA | ENSP00000312236.5:n.671-2059_671-2058insA | |
| ENST00000354071.7:c.2440_2441insA | ENSP00000326002.7:p.Leu814HisfsTer9 | |
| ENST00000357654.7:c.2440_2441insA | ENSP00000350283.3:p.Leu814HisfsTer9 | |
| ENST00000461221.5:c.*2223_*2224insA | ENSP00000418548.1:n.*2223_*2224insA | |
| ENST00000468300.5:c.787+1653_787+1654insA | ENSP00000417148.1:n.787+1653_787+1654insA | |
| ENST00000471181.6:c.2440_2441insA | ENSP00000418960.2:p.Leu814HisfsTer9 | |
| ENST00000478531.5:c.784+1653_784+1654insA | ENSP00000420412.1:n.784+1653_784+1654insA | |
| ENST00000484087.5:c.409+1653_409+1654insA | ENSP00000419481.1:n.409+1653_409+1654insA | |
| ENST00000487825.5:c.412+1653_412+1654insA | ENSP00000418212.1:n.412+1653_412+1654insA | |
| ENST00000491747.6:c.787+1653_787+1654insA | ENSP00000420705.2:n.787+1653_787+1654insA | |
| ENST00000493795.5:c.2299_2300insA | ENSP00000418775.1:p.Leu767HisfsTer9 | |
| ENST00000493919.5:c.646+1653_646+1654insA | ENSP00000418819.1:n.646+1653_646+1654insA | |
| ENST00000586385.5:c.5-29140_5-29139insA | ENSP00000465818.1:n.5-29140_5-29139insA | |
| ENST00000591534.5:c.-43-18570_-43-18569insA | ENSP00000467329.1:n.-43-18570_-43-18569insA | |
| ENST00000591849.5:c.-99+32180_-99+32181insA | ENSP00000465347.1:n.-99+32180_-99+32181insA | |
| ENST00000634433.1:c.2317_2318insA | ENSP00000489431.1:p.Leu773HisfsTer9 | |
| NM_007294.3:c.2440_2441insA , LRG_292t1:c.2440_2441insA | NP_009225.1:p.Leu814HisfsTer9 | |
| NM_007297.3:c.2299_2300insA | NP_009228.2:p.Leu767HisfsTer9 | |
| NM_007298.3:c.787+1653_787+1654insA | NP_009229.2:n.787+1653_787+1654insA | |
| NM_007299.3:c.787+1653_787+1654insA | NP_009230.2:n.787+1653_787+1654insA | |
| NM_007300.3:c.2440_2441insA | NP_009231.2:p.Leu814HisfsTer9 | |
| NR_027676.1:n.2576_2577insA | ||
| NM_007294.4:c.2440_2441insA MANE Select | NP_009225.1:p.Leu814HisfsTer9 | |
| NM_007297.4:c.2299_2300insA | NP_009228.2:p.Leu767HisfsTer9 | |
| NM_007299.4:c.787+1653_787+1654insA | NP_009230.2:n.787+1653_787+1654insA | |
| NM_007300.4:c.2440_2441insA | NP_009231.2:p.Leu814HisfsTer9 | |
| NR_027676.2:n.2617_2618insA |