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
gnomAD v4:
10-98430467-A-AGAAACTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98430471_98430472insCTTTGAAA , CM000672.2:g.98430471_98430472insCTTTGAAA | GRCh38 |
| NC_000010.10:g.100190228_100190229insCTTTGAAA , CM000672.1:g.100190228_100190229insCTTTGAAA | GRCh37 |
| NC_000010.9:g.100180218_100180219insCTTTGAAA | NCBI36 |
| NG_009646.1:g.21480_21481insAAAGTTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414009.2:c.768+103_768+104insAAAGTTTC | ENSP00000392462.2:n.768+103_768+104insAAAGTTTC | |
| ENST00000699112.1:c.507+103_507+104insAAAGTTTC | ENSP00000514137.1:n.507+103_507+104insAAAGTTTC | |
| ENST00000699113.1:c.*245+103_*245+104insAAAGTTTC | ENSP00000514138.1:n.*245+103_*245+104insAAAGTTTC | |
| ENST00000699114.1:n.754+103_754+104insAAAGTTTC | ||
| ENST00000699115.1:c.768+103_768+104insAAAGTTTC | ENSP00000514139.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699116.1:n.772_773insAAAGTTTC | ||
| ENST00000699117.1:n.1519+103_1519+104insAAAGTTTC | ||
| ENST00000699118.1:c.551-3204_551-3203insAAAGTTTC | ENSP00000514140.1:n.551-3204_551-3203insAAAGTTTC | |
| ENST00000699119.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514141.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699120.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514142.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699121.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514143.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699122.1:c.365-3204_365-3203insAAAGTTTC | ENSP00000514144.1:n.365-3204_365-3203insAAAGTTTC | |
| ENST00000699123.1:c.*536+103_*536+104insAAAGTTTC | ENSP00000514145.1:n.*536+103_*536+104insAAAGTTTC | |
| ENST00000699124.1:n.858+103_858+104insAAAGTTTC | ||
| ENST00000699125.1:c.650+103_650+104insAAAGTTTC | ENSP00000514146.1:n.650+103_650+104insAAAGTTTC | |
| ENST00000699126.1:n.1011+103_1011+104insAAAGTTTC | ||
| ENST00000699127.1:n.1011+103_1011+104insAAAGTTTC | ||
| ENST00000699128.1:c.768+103_768+104insAAAGTTTC | ENSP00000514147.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699129.1:c.768+103_768+104insAAAGTTTC | ENSP00000514148.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699130.1:n.1011+103_1011+104insAAAGTTTC | ||
| ENST00000699131.1:c.768+103_768+104insAAAGTTTC | ENSP00000514149.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699132.1:n.2337_2338insAAAGTTTC | ||
| ENST00000699133.1:c.768+103_768+104insAAAGTTTC | ENSP00000514150.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699134.1:c.878+103_878+104insAAAGTTTC | ENSP00000514151.1:n.878+103_878+104insAAAGTTTC | |
| ENST00000699135.1:c.*245+103_*245+104insAAAGTTTC | ENSP00000514152.1:n.*245+103_*245+104insAAAGTTTC | |
| ENST00000699136.1:c.768+103_768+104insAAAGTTTC | ENSP00000514153.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699137.1:c.551-3204_551-3203insAAAGTTTC | ENSP00000514154.1:n.551-3204_551-3203insAAAGTTTC | |
| ENST00000699138.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514155.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699139.1:c.507+103_507+104insAAAGTTTC | ENSP00000514156.1:n.507+103_507+104insAAAGTTTC | |
| ENST00000699140.1:c.768+103_768+104insAAAGTTTC | ENSP00000514157.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699141.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514158.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699142.1:c.768+103_768+104insAAAGTTTC | ENSP00000514159.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699143.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514160.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699144.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514161.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699145.1:c.768+103_768+104insAAAGTTTC | ENSP00000514162.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699146.1:c.768+103_768+104insAAAGTTTC | ENSP00000514164.1:n.768+103_768+104insAAAGTTTC | |
| ENST00000699147.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514165.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699149.1:n.1011+103_1011+104insAAAGTTTC | ||
| ENST00000699150.1:n.850+103_850+104insAAAGTTTC | ||
| ENST00000699151.1:n.2234+103_2234+104insAAAGTTTC | ||
| ENST00000699152.1:n.2436+103_2436+104insAAAGTTTC | ||
| ENST00000699153.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514166.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000699154.1:n.1249_1250insAAAGTTTC | ||
| ENST00000699159.1:c.*226+103_*226+104insAAAGTTTC | ENSP00000514167.1:n.*226+103_*226+104insAAAGTTTC | |
| ENST00000361490.9:c.768+103_768+104insAAAGTTTC MANE Select | ENSP00000355310.4:n.768+103_768+104insAAAGTTTC | |
| ENST00000325103.10:c.768+103_768+104insAAAGTTTC | ENSP00000326649.6:n.768+103_768+104insAAAGTTTC | |
| ENST00000338546.9:c.768+103_768+104insAAAGTTTC | ENSP00000343638.5:n.768+103_768+104insAAAGTTTC | |
| ENST00000359632.7:c.252+103_252+104insAAAGTTTC | ENSP00000352652.3:n.252+103_252+104insAAAGTTTC | |
| ENST00000361490.8:c.768+103_768+104insAAAGTTTC | ENSP00000355310.4:n.768+103_768+104insAAAGTTTC | |
| ENST00000414009.1:c.370+103_370+104insAAAGTTTC | ||
| ENST00000467246.5:n.1006+103_1006+104insAAAGTTTC | ||
| ENST00000470095.5:n.252+103_252+104insAAAGTTTC | ||
| ENST00000478087.5:n.413+103_413+104insAAAGTTTC | ||
| ENST00000498219.5:n.645+103_645+104insAAAGTTTC | ||
| ENST00000613394.4:c.768+103_768+104insAAAGTTTC | ENSP00000477926.1:n.768+103_768+104insAAAGTTTC | |
| NM_000195.3:c.768+103_768+104insAAAGTTTC | NP_000186.2:n.768+103_768+104insAAAGTTTC | |
| NM_000195.4:c.768+103_768+104insAAAGTTTC | NP_000186.2:n.768+103_768+104insAAAGTTTC | |
| NM_001311345.1:c.-106+103_-106+104insAAAGTTTC | NP_001298274.1:n.-106+103_-106+104insAAAGTTTC | |
| NM_182639.2:c.768+103_768+104insAAAGTTTC | NP_872577.1:n.768+103_768+104insAAAGTTTC | |
| NM_182639.3:c.768+103_768+104insAAAGTTTC | NP_872577.1:n.768+103_768+104insAAAGTTTC | |
| XM_005269755.2:c.768+103_768+104insAAAGTTTC | XP_005269812.1:n.768+103_768+104insAAAGTTTC | |
| XM_005269756.2:c.768+103_768+104insAAAGTTTC | XP_005269813.1:n.768+103_768+104insAAAGTTTC | |
| XM_005269757.3:c.768+103_768+104insAAAGTTTC | XP_005269814.1:n.768+103_768+104insAAAGTTTC | |
| XM_005269758.1:c.768+103_768+104insAAAGTTTC | XP_005269815.1:n.768+103_768+104insAAAGTTTC | |
| XM_005269759.1:c.399+103_399+104insAAAGTTTC | XP_005269816.1:n.399+103_399+104insAAAGTTTC | |
| XM_005269760.3:c.-106+103_-106+104insAAAGTTTC | XP_005269817.1:n.-106+103_-106+104insAAAGTTTC | |
| XM_005269761.1:c.-106+103_-106+104insAAAGTTTC | XP_005269818.1:n.-106+103_-106+104insAAAGTTTC | |
| XM_006717818.1:c.507+103_507+104insAAAGTTTC | XP_006717881.1:n.507+103_507+104insAAAGTTTC | |
| NM_001322476.1:c.768+103_768+104insAAAGTTTC | NP_001309405.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322477.1:c.768+103_768+104insAAAGTTTC | NP_001309406.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322478.1:c.768+103_768+104insAAAGTTTC | NP_001309407.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322479.1:c.768+103_768+104insAAAGTTTC | NP_001309408.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322480.1:c.507+103_507+104insAAAGTTTC | NP_001309409.1:n.507+103_507+104insAAAGTTTC | |
| NM_001322481.1:c.507+103_507+104insAAAGTTTC | NP_001309410.1:n.507+103_507+104insAAAGTTTC | |
| NM_001322482.1:c.507+103_507+104insAAAGTTTC | NP_001309411.1:n.507+103_507+104insAAAGTTTC | |
| NM_001322483.1:c.399+103_399+104insAAAGTTTC | NP_001309412.1:n.399+103_399+104insAAAGTTTC | |
| NM_001322484.1:c.399+103_399+104insAAAGTTTC | NP_001309413.1:n.399+103_399+104insAAAGTTTC | |
| NM_001322485.1:c.399+103_399+104insAAAGTTTC | NP_001309414.1:n.399+103_399+104insAAAGTTTC | |
| NM_001322487.1:c.-205+103_-205+104insAAAGTTTC | NP_001309416.1:n.-205+103_-205+104insAAAGTTTC | |
| NM_001322489.1:c.-106+103_-106+104insAAAGTTTC | NP_001309418.1:n.-106+103_-106+104insAAAGTTTC | |
| NM_001322490.1:c.650+103_650+104insAAAGTTTC | NP_001309419.1:n.650+103_650+104insAAAGTTTC | |
| NM_001322491.1:c.768+103_768+104insAAAGTTTC | NP_001309420.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322492.1:c.650+103_650+104insAAAGTTTC | NP_001309421.1:n.650+103_650+104insAAAGTTTC | |
| XM_005269757.4:c.768+103_768+104insAAAGTTTC | XP_005269814.1:n.768+103_768+104insAAAGTTTC | |
| XM_017016170.1:c.507+103_507+104insAAAGTTTC | XP_016871659.1:n.507+103_507+104insAAAGTTTC | |
| XM_017016171.2:c.399+103_399+104insAAAGTTTC | XP_016871660.1:n.399+103_399+104insAAAGTTTC | |
| XM_017016172.2:c.-106+103_-106+104insAAAGTTTC | XP_016871661.1:n.-106+103_-106+104insAAAGTTTC | |
| XM_017016173.1:c.650+103_650+104insAAAGTTTC | XP_016871662.1:n.650+103_650+104insAAAGTTTC | |
| XM_024447971.1:c.650+103_650+104insAAAGTTTC | XP_024303739.1:n.650+103_650+104insAAAGTTTC | |
| XM_024447972.1:c.-205+103_-205+104insAAAGTTTC | XP_024303740.1:n.-205+103_-205+104insAAAGTTTC | |
| XR_001747098.1:n.1037+103_1037+104insAAAGTTTC | ||
| XR_001747099.2:n.1037+103_1037+104insAAAGTTTC | ||
| XR_001747100.2:n.1037+103_1037+104insAAAGTTTC | ||
| XR_001747101.2:n.1037+103_1037+104insAAAGTTTC | ||
| NM_000195.5:c.768+103_768+104insAAAGTTTC MANE Select | NP_000186.2:n.768+103_768+104insAAAGTTTC | |
| NM_001311345.2:c.-106+103_-106+104insAAAGTTTC | NP_001298274.1:n.-106+103_-106+104insAAAGTTTC | |
| NM_001322476.2:c.768+103_768+104insAAAGTTTC | NP_001309405.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322477.2:c.768+103_768+104insAAAGTTTC | NP_001309406.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322478.2:c.768+103_768+104insAAAGTTTC | NP_001309407.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322479.2:c.768+103_768+104insAAAGTTTC | NP_001309408.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322480.2:c.507+103_507+104insAAAGTTTC | NP_001309409.1:n.507+103_507+104insAAAGTTTC | |
| NM_001322481.2:c.507+103_507+104insAAAGTTTC | NP_001309410.1:n.507+103_507+104insAAAGTTTC | |
| NM_001322482.2:c.507+103_507+104insAAAGTTTC | NP_001309411.1:n.507+103_507+104insAAAGTTTC | |
| NM_001322483.2:c.399+103_399+104insAAAGTTTC | NP_001309412.1:n.399+103_399+104insAAAGTTTC | |
| NM_001322484.2:c.399+103_399+104insAAAGTTTC | NP_001309413.1:n.399+103_399+104insAAAGTTTC | |
| NM_001322485.2:c.399+103_399+104insAAAGTTTC | NP_001309414.1:n.399+103_399+104insAAAGTTTC | |
| NM_001322487.2:c.-205+103_-205+104insAAAGTTTC | NP_001309416.1:n.-205+103_-205+104insAAAGTTTC | |
| NM_001322489.2:c.-106+103_-106+104insAAAGTTTC | NP_001309418.1:n.-106+103_-106+104insAAAGTTTC | |
| NM_001322490.2:c.650+103_650+104insAAAGTTTC | NP_001309419.1:n.650+103_650+104insAAAGTTTC | |
| NM_001322491.2:c.768+103_768+104insAAAGTTTC | NP_001309420.1:n.768+103_768+104insAAAGTTTC | |
| NM_001322492.2:c.650+103_650+104insAAAGTTTC | NP_001309421.1:n.650+103_650+104insAAAGTTTC | |
| NM_182639.4:c.768+103_768+104insAAAGTTTC | NP_872577.1:n.768+103_768+104insAAAGTTTC |