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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
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.77791898del , CM000672.2:g.77791898del
GRCh38
NC_000010.10:g.79551656del , CM000672.1:g.79551656del
GRCh37
NC_000010.9:g.79221662del
NCBI36
NG_011484.1:g.139694del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372391.7:c.*543del
MANE Select
ENSP00000361467.2:n.*543del
ENST00000372391.6:c.*543del
ENSP00000361467.2:n.*543del
ENST00000424842.5:c.3186del
ENSP00000394797.1:n.3186del
ENST00000475613.6:n.6140del
NM_004747.3:c.*543del
NP_004738.3:n.*543del
XM_005270276.3:c.*543del
XP_005270333.1:n.*543del
XM_006718056.2:c.*543del
XP_006718119.1:n.*543del
XM_011540341.1:c.*543del
XP_011538643.1:n.*543del
XM_011540342.1:c.*543del
XP_011538644.1:n.*543del
XM_011540343.1:c.*543del
XP_011538645.1:n.*543del
XM_011540344.1:c.*543del
XP_011538646.1:n.*543del
XM_011540345.1:c.*543del
XP_011538647.1:n.*543del
XM_011540347.1:c.*543del
XP_011538649.1:n.*543del
XM_005270276.4:c.*543del
XP_005270333.1:n.*543del
XM_006718056.3:c.*543del
XP_006718119.1:n.*543del
XM_011540341.3:c.*543del
XP_011538643.1:n.*543del
XM_011540344.2:c.*543del
XP_011538646.1:n.*543del
XM_011540347.2:c.*543del
XP_011538649.1:n.*543del
XM_017016913.1:c.*543del
XP_016872402.1:n.*543del
XM_017016914.1:c.*543del
XP_016872403.1:n.*543del
XM_017016915.1:c.*543del
XP_016872404.1:n.*543del
XM_024448250.1:c.*543del
XP_024304018.1:n.*543del
NM_004747.4:c.*543del
MANE Select
NP_004738.3:n.*543del