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:
252081
ClinVar RCV Id:
RCV000237571
dbSNP Id:
rs879255052
PubMed:
PMID:20538126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120099_11120110del , CM000681.2:g.11120099_11120110del | GRCh38 |
| NC_000019.9:g.11230775_11230786del , CM000681.1:g.11230775_11230786del | GRCh37 |
| NC_000019.8:g.11091775_11091786del | NCBI36 |
| NG_009060.1:g.35719_35730del , LRG_274:g.35719_35730del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2111_2122del | ENSP00000252444.6:p.Val704_Thr707del | |
| ENST00000559340.2:c.1713_1724del | ENSP00000453696.2:p.Ser571_Asp574del | |
| ENST00000560467.2:c.1733_1744del | ENSP00000453513.2:p.Val578_Thr581del | |
| ENST00000558518.6:c.1853_1864del MANE Select | ENSP00000454071.1:p.Val618_Thr621del | |
| ENST00000252444.9:c.2107_2118del | ||
| ENST00000455727.6:c.1349_1360del | ENSP00000397829.2:p.Val450_Thr453del | |
| ENST00000535915.5:c.1730_1741del | ENSP00000440520.1:p.Val577_Thr580del | |
| ENST00000545707.5:c.1472_1483del | ENSP00000437639.1:p.Val491_Thr494del | |
| ENST00000557933.5:c.1853_1864del | ENSP00000453557.1:p.Val618_Thr621del | |
| ENST00000558013.5:c.1853_1864del | ENSP00000453346.1:p.Val618_Thr621del | |
| ENST00000558518.5:c.1853_1864del | ENSP00000454071.1:p.Val618_Thr621del | |
| ENST00000559340.1:c.434_445del | ||
| NM_000527.4:c.1853_1864del , LRG_274t1:c.1853_1864del | NP_000518.1:p.Val618_Thr621del | |
| NM_001195798.1:c.1853_1864del | NP_001182727.1:p.Val618_Thr621del | |
| NM_001195799.1:c.1730_1741del | NP_001182728.1:p.Val577_Thr580del | |
| NM_001195800.1:c.1349_1360del | NP_001182729.1:p.Val450_Thr453del | |
| NM_001195803.1:c.1472_1483del | NP_001182732.1:p.Val491_Thr494del | |
| XM_011528010.1:c.1853_1864del | XP_011526312.1:p.Val618_Thr621del | |
| XM_011528011.1:c.1472_1483del | XP_011526313.1:p.Val491_Thr494del | |
| XR_244074.2:n.1863_1874del | ||
| XM_011528010.2:c.1853_1864del | XP_011526312.1:p.Val618_Thr621del | |
| XR_001753685.2:n.1970_1981del | ||
| XR_001753686.2:n.1830_1841del | ||
| NM_000527.5:c.1853_1864del MANE Select | NP_000518.1:p.Val618_Thr621del | |
| NM_001195798.2:c.1853_1864del | NP_001182727.1:p.Val618_Thr621del | |
| NM_001195799.2:c.1730_1741del | NP_001182728.1:p.Val577_Thr580del | |
| NM_001195800.2:c.1349_1360del | NP_001182729.1:p.Val450_Thr453del | |
| NM_001195803.2:c.1472_1483del | NP_001182732.1:p.Val491_Thr494del |