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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122525_152122526del , CM000668.2:g.152122525_152122526del | GRCh38 |
| NC_000006.11:g.152443660_152443661del , CM000668.1:g.152443660_152443661del | GRCh37 |
| NC_000006.10:g.152485353_152485354del | NCBI36 |
| NG_012855.1:g.519876_519877del | |
| NG_008493.2:g.470835_470836del | |
| NG_012855.2:g.519876_519877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2840_2841del (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Glu947GlyfsTer? | |
| ENST00000367255.10:c.26306_26307del (SYNE1) MANE Select | ENSP00000356224.5:p.Glu8769GlyfsTer? | |
| ENST00000423061.6:c.26162_26163del (SYNE1) | ENSP00000396024.1:p.Glu8721GlyfsTer? | |
| ENST00000672154.1:c.1649_1650del (SYNE1) | ||
| ENST00000672169.1:c.2024_2025del (SYNE1) | ||
| ENST00000673173.1:c.1891_1892del (SYNE1) | ||
| ENST00000673451.1:c.2156_2157del (SYNE1) | ENSP00000500189.1:n.2156_2157del | |
| ENST00000341594.9:c.25091_25092del (SYNE1) | ENSP00000341887.6:p.Glu8364GlyfsTer? | |
| ENST00000347037.9:n.3054_3055del (SYNE1) | ||
| ENST00000354674.4:c.2840_2841del (SYNE1) | ENSP00000346701.4:p.Glu947GlyfsTer? | |
| ENST00000367251.7:c.5082_5083del (SYNE1) | ENSP00000356220.3:n.5082_5083del | |
| ENST00000367255.9:c.26306_26307del (SYNE1) | ENSP00000356224.5:p.Glu8769GlyfsTer? | |
| ENST00000367256.9:n.9998_9999del (SYNE1) | ||
| ENST00000367257.8:c.4185_4186del (SYNE1) | ENSP00000356226.4:n.4185_4186del | |
| ENST00000409694.6:n.9890_9891del (SYNE1) | ||
| ENST00000423061.5:c.26162_26163del (SYNE1) | ENSP00000396024.1:p.Glu8721GlyfsTer? | |
| ENST00000427531.6:c.851-2741_851-2740del (ESR1) | ENSP00000394721.2:n.851-2741_851-2740del | |
| ENST00000460912.6:n.2920_2921del (SYNE1) | ||
| ENST00000478916.5:n.6943_6944del (SYNE1) | ||
| ENST00000539504.5:c.2771_2772del (SYNE1) | ENSP00000441052.1:p.Glu924GlyfsTer? | |
| NM_033071.3:c.26162_26163del (SYNE1) | NP_149062.1:p.Glu8721GlyfsTer? | |
| NM_182961.3:c.26306_26307del (SYNE1) | NP_892006.3:p.Glu8769GlyfsTer? | |
| XM_006715407.1:c.26453_26454del (SYNE1) | XP_006715470.1:p.Glu8818GlyfsTer? | |
| XM_006715408.1:c.26441_26442del (SYNE1) | XP_006715471.1:p.Glu8814GlyfsTer? | |
| XM_006715409.1:c.26432_26433del (SYNE1) | XP_006715472.1:p.Glu8811GlyfsTer? | |
| XM_006715410.1:c.26411_26412del (SYNE1) | XP_006715473.1:p.Glu8804GlyfsTer? | |
| XM_006715411.1:c.26402_26403del (SYNE1) | XP_006715474.1:p.Glu8801GlyfsTer? | |
| XM_006715412.1:c.26396_26397del (SYNE1) | XP_006715475.1:p.Glu8799GlyfsTer? | |
| XM_006715413.1:c.26384_26385del (SYNE1) | XP_006715476.1:p.Glu8795GlyfsTer? | |
| XM_006715414.1:c.26381_26382del (SYNE1) | XP_006715477.1:p.Glu8794GlyfsTer? | |
| XM_006715415.1:c.26342_26343del (SYNE1) | XP_006715478.1:p.Glu8781GlyfsTer? | |
| XM_006715416.1:c.26327_26328del (SYNE1) | XP_006715479.1:p.Glu8776GlyfsTer? | |
| XM_006715417.1:c.26312_26313del (SYNE1) | XP_006715480.1:p.Glu8771GlyfsTer? | |
| XM_006715420.1:c.26300_26301del (SYNE1) | XP_006715483.1:p.Glu8767GlyfsTer? | |
| XM_006715421.1:c.26297_26298del (SYNE1) | XP_006715484.1:p.Glu8766GlyfsTer? | |
| XM_006715422.1:c.26294_26295del (SYNE1) | XP_006715485.1:p.Glu8765GlyfsTer? | |
| XM_006715423.1:c.*117_*118del (SYNE1) | XP_006715486.1:n.*117_*118del | |
| XM_006715424.1:c.*117_*118del (SYNE1) | XP_006715487.1:n.*117_*118del | |
| XM_006715425.1:c.*117_*118del (SYNE1) | XP_006715488.1:n.*117_*118del | |
| XM_011535641.1:c.26450_26451del (SYNE1) | XP_011533943.1:p.Glu8817GlyfsTer? | |
| XM_011535642.1:c.26438_26439del (SYNE1) | XP_011533944.1:p.Glu8813GlyfsTer? | |
| XM_011535643.1:c.26288_26289del (SYNE1) | XP_011533945.1:p.Glu8763GlyfsTer? | |
| XM_011535644.1:c.24728_24729del (SYNE1) | XP_011533946.1:p.Glu8243GlyfsTer? | |
| XM_011535645.1:c.24221_24222del (SYNE1) | XP_011533947.1:p.Glu8074GlyfsTer? | |
| XM_011535647.1:c.19688_19689del (SYNE1) | XP_011533949.1:p.Glu6563GlyfsTer? | |
| NM_001328100.1:c.851-2741_851-2740del (ESR1) | NP_001315029.1:n.851-2741_851-2740del | |
| NM_001347701.1:c.*117_*118del (SYNE1) | NP_001334630.1:n.*117_*118del | |
| NM_001347702.1:c.2840_2841del (SYNE1) | NP_001334631.1:p.Glu947GlyfsTer? | |
| XM_006715408.2:c.26441_26442del (SYNE1) | XP_006715471.1:p.Glu8814GlyfsTer? | |
| XM_006715410.2:c.26411_26412del (SYNE1) | XP_006715473.1:p.Glu8804GlyfsTer? | |
| XM_006715412.2:c.26396_26397del (SYNE1) | XP_006715475.1:p.Glu8799GlyfsTer? | |
| XM_006715413.2:c.26384_26385del (SYNE1) | XP_006715476.1:p.Glu8795GlyfsTer? | |
| XM_006715415.2:c.26342_26343del (SYNE1) | XP_006715478.1:p.Glu8781GlyfsTer? | |
| XM_006715416.2:c.26327_26328del (SYNE1) | XP_006715479.1:p.Glu8776GlyfsTer? | |
| XM_006715417.2:c.26312_26313del (SYNE1) | XP_006715480.1:p.Glu8771GlyfsTer? | |
| XM_006715420.2:c.26300_26301del (SYNE1) | XP_006715483.1:p.Glu8767GlyfsTer? | |
| XM_006715421.2:c.26297_26298del (SYNE1) | XP_006715484.1:p.Glu8766GlyfsTer? | |
| XM_006715423.2:c.*117_*118del (SYNE1) | XP_006715486.1:n.*117_*118del | |
| XM_006715424.2:c.*117_*118del (SYNE1) | XP_006715487.1:n.*117_*118del | |
| XM_006715425.2:c.*117_*118del (SYNE1) | XP_006715488.1:n.*117_*118del | |
| XM_011535641.2:c.26450_26451del (SYNE1) | XP_011533943.1:p.Glu8817GlyfsTer? | |
| XM_011535642.2:c.26438_26439del (SYNE1) | XP_011533944.1:p.Glu8813GlyfsTer? | |
| XM_011535645.2:c.24221_24222del (SYNE1) | XP_011533947.1:p.Glu8074GlyfsTer? | |
| XM_017010608.1:c.26453_26454del (SYNE1) | XP_016866097.1:p.Glu8818GlyfsTer? | |
| XM_017010609.1:c.26453_26454del (SYNE1) | XP_016866098.1:p.Glu8818GlyfsTer? | |
| XM_017010610.1:c.26432_26433del (SYNE1) | XP_016866099.1:p.Glu8811GlyfsTer? | |
| XM_017010611.2:c.26426_26427del (SYNE1) | XP_016866100.1:p.Glu8809GlyfsTer? | |
| XM_017010612.1:c.26375_26376del (SYNE1) | XP_016866101.1:p.Glu8792GlyfsTer? | |
| XM_017010613.1:c.26339_26340del (SYNE1) | XP_016866102.1:p.Glu8780GlyfsTer? | |
| XM_017010614.1:c.26297_26298del (SYNE1) | XP_016866103.1:p.Glu8766GlyfsTer? | |
| XM_017010615.1:c.26186_26187del (SYNE1) | XP_016866104.1:p.Glu8729GlyfsTer? | |
| XM_017010616.1:c.*117_*118del (SYNE1) | XP_016866105.1:n.*117_*118del | |
| XM_017010617.1:c.*117_*118del (SYNE1) | XP_016866106.1:n.*117_*118del | |
| XM_017010618.1:c.*117_*118del (SYNE1) | XP_016866107.1:n.*117_*118del | |
| XM_017010619.1:c.24728_24729del (SYNE1) | XP_016866108.1:p.Glu8243GlyfsTer? | |
| NM_182961.4:c.26306_26307del (SYNE1) MANE Select | NP_892006.3:p.Glu8769GlyfsTer? | |
| NM_001328100.2:c.851-2741_851-2740del (ESR1) | NP_001315029.1:n.851-2741_851-2740del | |
| NM_001347701.2:c.*117_*118del (SYNE1) | NP_001334630.1:n.*117_*118del | |
| NM_001347702.2:c.2840_2841del (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Glu947GlyfsTer? | |
| NM_033071.5:c.26162_26163del (SYNE1) | NP_149062.2:p.Glu8721GlyfsTer? |