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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_000020.11:g.3668251del , CM000682.2:g.3668251del
GRCh38
NC_000020.10:g.3648898del , CM000682.1:g.3648898del
GRCh37
NC_000020.9:g.3596898del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356518.7:c.*713del
MANE Select
ENSP00000348912.3:n.*713del
ENST00000350009.6:c.*713del
ENSP00000322550.5:n.*713del
ENST00000356518.6:c.*713del
ENSP00000348912.2:n.*713del
ENST00000379861.8:c.*713del
ENSP00000369190.4:n.*713del
ENST00000466620.5:n.2716del
ENST00000483362.1:n.2078del
ENST00000619289.4:c.*713del
ENSP00000484600.1:n.*713del
NM_001282447.1:c.*713del
NP_001269376.1:n.*713del
NM_025220.3:c.*713del
NP_079496.1:n.*713del
NM_153202.2:c.*713del
NP_694882.1:n.*713del
XM_005260843.1:c.*713del
XP_005260900.1:n.*713del
XM_006723639.1:c.*713del
XP_006723702.1:n.*713del
XM_006723640.1:c.*713del
XP_006723703.1:n.*713del
XM_011529366.1:c.*713del
XP_011527668.1:n.*713del
XM_011529367.1:c.*713del
XP_011527669.1:n.*713del
XM_011529368.1:c.*713del
XP_011527670.1:n.*713del
XM_011529373.1:c.*713del
XP_011527675.1:n.*713del
XR_937153.1:n.3176del
XR_937154.1:n.3176del
XR_937155.1:n.3097del
XR_937157.1:n.3099del
NM_001282447.2:c.*713del
NP_001269376.1:n.*713del
NM_025220.4:c.*713del
NP_079496.1:n.*713del
NM_153202.3:c.*713del
NP_694882.1:n.*713del
XM_011529373.2:c.*713del
XP_011527675.1:n.*713del
XR_001754405.1:n.3263del
XR_002958534.1:n.3372del
NM_001282447.3:c.*713del
NP_001269376.1:n.*713del
NM_025220.5:c.*713del
MANE Select
NP_079496.1:n.*713del
NM_153202.4:c.*713del
NP_694882.1:n.*713del