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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_000002.12:g.230168715del , CM000664.2:g.230168715del
GRCh38
NC_000002.11:g.231033431del , CM000664.1:g.231033431del
GRCh37
NC_000002.10:g.230741675del
NCBI36
NG_008295.1:g.56397del , LRG_109:g.56397del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000698099.1:c.*77+332del
ENSP00000513563.1:n.*77+332del
ENST00000698100.1:c.*77+332del
ENSP00000513564.1:n.*77+332del
ENST00000258381.11:c.*409del
MANE Select
ENSP00000258381.6:n.*409del
ENST00000358662.9:c.*409del
ENSP00000351488.4:n.*409del
ENST00000477068.1:n.1303del
XM_006712489.2:c.*409del
XP_006712552.1:n.*409del
XM_005246525.4:c.*409del
XP_005246582.1:n.*409del
XM_006712489.4:c.*409del
XP_006712552.1:n.*409del
XM_011511088.3:c.*409del
XP_011509390.1:n.*409del
XM_011511091.3:c.*409del
XP_011509393.1:n.*409del
XM_024452850.1:c.*409del
XP_024308618.1:n.*409del
NM_004509.4:c.*409del
NP_004500.4:n.*409del
NM_080424.3:c.*409del
NP_536349.3:n.*409del
NM_001378442.1:c.*409del
NP_001365371.1:n.*409del
NM_001378443.1:c.*409del
NP_001365372.1:n.*409del
NM_001378444.1:c.*409del
NP_001365373.1:n.*409del
NM_001378445.1:c.*409del
NP_001365374.1:n.*409del
NM_001378446.1:c.*409del
NP_001365375.1:n.*409del
NM_004509.5:c.*409del
NP_004500.4:n.*409del
NM_080424.4:c.*409del
MANE Select
NP_536349.3:n.*409del