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:
251056
ClinVar RCV Id:
RCV000238542
dbSNP Id:
rs879254431
PubMed:
PMID:23815734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102412_11102417del , CM000681.2:g.11102412_11102417del | GRCh38 |
| NC_000019.9:g.11213088_11213093del , CM000681.1:g.11213088_11213093del | GRCh37 |
| NC_000019.8:g.11074088_11074093del | NCBI36 |
| NG_009060.1:g.18032_18037del , LRG_274:g.18032_18037del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.449-252_449-247del | ENSP00000252444.6:n.449-252_449-247del | |
| ENST00000559340.2:c.191-252_191-247del | ENSP00000453696.2:n.191-252_191-247del | |
| ENST00000560467.2:c.191-252_191-247del | ENSP00000453513.2:n.191-252_191-247del | |
| ENST00000558518.6:c.191-252_191-247del MANE Select | ENSP00000454071.1:n.191-252_191-247del | |
| ENST00000252444.9:c.445-252_445-247del | ||
| ENST00000455727.6:c.191-252_191-247del | ENSP00000397829.2:n.191-252_191-247del | |
| ENST00000535915.5:c.190+2067_190+2072del | ENSP00000440520.1:n.190+2067_190+2072del | |
| ENST00000545707.5:c.191-252_191-247del | ENSP00000437639.1:n.191-252_191-247del | |
| ENST00000557933.5:c.191-252_191-247del | ENSP00000453557.1:n.191-252_191-247del | |
| ENST00000557958.1:n.277-252_277-247del | ||
| ENST00000558013.5:c.191-252_191-247del | ENSP00000453346.1:n.191-252_191-247del | |
| ENST00000558518.5:c.191-252_191-247del | ENSP00000454071.1:n.191-252_191-247del | |
| NM_000527.4:c.191-252_191-247del , LRG_274t1:c.191-252_191-247del | NP_000518.1:n.191-252_191-247del | |
| NM_001195798.1:c.191-252_191-247del | NP_001182727.1:n.191-252_191-247del | |
| NM_001195799.1:c.190+2067_190+2072del | NP_001182728.1:n.190+2067_190+2072del | |
| NM_001195800.1:c.191-252_191-247del | NP_001182729.1:n.191-252_191-247del | |
| NM_001195803.1:c.191-252_191-247del | NP_001182732.1:n.191-252_191-247del | |
| XM_011528010.1:c.191-252_191-247del | XP_011526312.1:n.191-252_191-247del | |
| XM_011528011.1:c.191-252_191-247del | XP_011526313.1:n.191-252_191-247del | |
| XR_244074.2:n.341-252_341-247del | ||
| XM_011528010.2:c.191-252_191-247del | XP_011526312.1:n.191-252_191-247del | |
| XR_001753685.2:n.308-252_308-247del | ||
| XR_001753686.2:n.308-252_308-247del | ||
| NM_000527.5:c.191-252_191-247del MANE Select | NP_000518.1:n.191-252_191-247del | |
| NM_001195798.2:c.191-252_191-247del | NP_001182727.1:n.191-252_191-247del | |
| NM_001195799.2:c.190+2067_190+2072del | NP_001182728.1:n.190+2067_190+2072del | |
| NM_001195800.2:c.191-252_191-247del | NP_001182729.1:n.191-252_191-247del | |
| NM_001195803.2:c.191-252_191-247del | NP_001182732.1:n.191-252_191-247del |