SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
251455
ClinVar RCV Id:
RCV000237258
dbSNP Id:
rs879254677
PubMed:
PMID:11810272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11106666_11106669del , CM000681.2:g.11106666_11106669del | GRCh38 |
| NC_000019.9:g.11217342_11217345del , CM000681.1:g.11217342_11217345del | GRCh37 |
| NC_000019.8:g.11078342_11078345del | NCBI36 |
| NG_009060.1:g.22286_22289del , LRG_274:g.22286_22289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1054_1057del | ENSP00000252444.6:p.Asp352LysfsTer7 | |
| ENST00000559340.2:c.796_799del | ENSP00000453696.2:p.Asp266LysfsTer7 | |
| ENST00000560467.2:c.796_799del | ENSP00000453513.2:p.Asp266LysfsTer7 | |
| ENST00000558518.6:c.796_799del MANE Select | ENSP00000454071.1:p.Asp266LysfsTer7 | |
| ENST00000252444.9:c.1050_1053del | ||
| ENST00000455727.6:c.314-726_314-723del | ENSP00000397829.2:n.314-726_314-723del | |
| ENST00000535915.5:c.673_676del | ENSP00000440520.1:p.Asp225LysfsTer7 | |
| ENST00000545707.5:c.415_418del | ENSP00000437639.1:p.Asp139LysfsTer7 | |
| ENST00000557933.5:c.796_799del | ENSP00000453557.1:p.Asp266LysfsTer7 | |
| ENST00000558013.5:c.796_799del | ENSP00000453346.1:p.Asp266LysfsTer7 | |
| ENST00000558518.5:c.796_799del | ENSP00000454071.1:p.Asp266LysfsTer7 | |
| ENST00000558528.1:n.311_314del | ||
| ENST00000560467.1:c.396_399del | ||
| NM_000527.4:c.796_799del , LRG_274t1:c.796_799del | NP_000518.1:p.Asp266LysfsTer7 | |
| NM_001195798.1:c.796_799del | NP_001182727.1:p.Asp266LysfsTer7 | |
| NM_001195799.1:c.673_676del | NP_001182728.1:p.Asp225LysfsTer7 | |
| NM_001195800.1:c.314-726_314-723del | NP_001182729.1:n.314-726_314-723del | |
| NM_001195803.1:c.415_418del | NP_001182732.1:p.Asp139LysfsTer7 | |
| XM_011528010.1:c.796_799del | XP_011526312.1:p.Asp266LysfsTer7 | |
| XM_011528011.1:c.415_418del | XP_011526313.1:p.Asp139LysfsTer7 | |
| XR_244074.2:n.946_949del | ||
| XM_011528010.2:c.796_799del | XP_011526312.1:p.Asp266LysfsTer7 | |
| XR_001753685.2:n.913_916del | ||
| XR_001753686.2:n.913_916del | ||
| NM_000527.5:c.796_799del MANE Select | NP_000518.1:p.Asp266LysfsTer7 | |
| NM_001195798.2:c.796_799del | NP_001182727.1:p.Asp266LysfsTer7 | |
| NM_001195799.2:c.673_676del | NP_001182728.1:p.Asp225LysfsTer7 | |
| NM_001195800.2:c.314-726_314-723del | NP_001182729.1:n.314-726_314-723del | |
| NM_001195803.2:c.415_418del | NP_001182732.1:p.Asp139LysfsTer7 |