OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Linked Data
ClinVar Variation Id:
30374
ClinVar RCV Id:
RCV000023322
dbSNP Id:
rs387906866
PubMed:
PMID:22010916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.9527802_9527805del , CM000664.2:g.9527802_9527805del | GRCh38 |
| NC_000002.11:g.9667931_9667934del , CM000664.1:g.9667931_9667934del | GRCh37 |
| NC_000002.10:g.9585382_9585385del | NCBI36 |
| NG_029873.1:g.32987_32990del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649068.2:n.782_785del | ||
| ENST00000699315.1:n.393_396del | ||
| ENST00000699316.1:c.*506_*509del | ENSP00000514295.1:n.*506_*509del | |
| ENST00000699317.1:c.603_606del | ENSP00000514296.1:p.Asp201GlufsTer22 | |
| ENST00000699318.1:c.603_606del | ENSP00000514297.1:p.Asp201GlufsTer11 | |
| ENST00000699319.1:n.909_912del | ||
| ENST00000699321.1:c.603_606del | ENSP00000514298.1:p.Asp201GlufsTer22 | |
| ENST00000699323.1:n.684_687del | ||
| ENST00000699324.1:c.603_606del | ENSP00000514300.1:p.Asp201GlufsTer11 | |
| ENST00000699325.1:c.603_606del | ENSP00000514301.1:p.Asp201GlufsTer11 | |
| ENST00000699326.1:n.716_719del | ||
| ENST00000310823.8:c.603_606del MANE Select | ENSP00000309968.3:p.Asp201GlufsTer11 | |
| ENST00000618923.2:c.603_606del | ENSP00000480552.1:p.Asp201GlufsTer11 | |
| ENST00000647610.1:c.*133_*136del | ENSP00000497929.1:n.*133_*136del | |
| ENST00000647622.1:n.782_785del | ||
| ENST00000647979.1:c.*133_*136del | ENSP00000497542.1:n.*133_*136del | |
| ENST00000648548.1:n.810_813del | ||
| ENST00000648857.1:n.648_651del | ||
| ENST00000649227.1:c.*364_*367del | ENSP00000497830.1:n.*364_*367del | |
| ENST00000649686.1:n.393_396del | ||
| ENST00000649972.1:n.841_844del | ||
| ENST00000650116.1:c.*364_*367del | ENSP00000497592.1:n.*364_*367del | |
| ENST00000650241.1:n.546_549del | ||
| ENST00000310823.7:c.603_606del | ENSP00000309968.3:p.Asp201GlufsTer11 | |
| ENST00000478059.1:n.772_775del | ||
| ENST00000497134.5:c.603_606del | ENSP00000418728.1:p.Asp201GlufsTer11 | |
| ENST00000618923.1:c.603_606del | ENSP00000480552.1:p.Asp201GlufsTer11 | |
| NM_003183.4:c.603_606del | NP_003174.3:p.Asp201GlufsTer11 | |
| XM_011510375.1:c.510_513del | XP_011508677.1:p.Asp170GlufsTer11 | |
| XM_011510376.1:c.-78_-75del | XP_011508678.1:n.-78_-75del | |
| NM_003183.6:c.603_606del MANE Select | NP_003174.3:p.Asp201GlufsTer11 | |
| XM_011510375.3:c.510_513del | XP_011508677.1:p.Asp170GlufsTer11 | |
| XM_011510376.3:c.-78_-75del | XP_011508678.1:n.-78_-75del | |
| XM_017004785.2:c.-300_-297del | XP_016860274.1:n.-300_-297del | |
| XM_017004786.2:c.-320_-317del | XP_016860275.1:n.-320_-317del | |
| XM_024453056.1:c.-2247_-2244del | XP_024308824.1:n.-2247_-2244del | |
| NM_001382777.1:c.-78_-75del | NP_001369706.1:n.-78_-75del | |
| NM_001382778.1:c.-320_-317del | NP_001369707.1:n.-320_-317del |