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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_000012.12:g.53211562del , CM000674.2:g.53211562del
GRCh38
NC_000012.11:g.53605346del , CM000674.1:g.53605346del
GRCh37
NC_000012.10:g.51891613del
NCBI36
NG_029822.1:g.25696del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000425354.7:c.*115del
MANE Select
ENSP00000388510.2:n.*115del
ENST00000338561.9:c.*115del
ENSP00000343698.5:n.*115del
ENST00000394426.5:c.*115del
ENSP00000377947.2:n.*115del
ENST00000425354.6:c.*115del
ENSP00000388510.2:n.*115del
ENST00000543726.1:c.*115del
ENSP00000444335.1:n.*115del
ENST00000543762.5:n.1473del
NM_000966.5:c.*115del
NP_000957.1:n.*115del
NM_001042728.2:c.*115del
NP_001036193.1:n.*115del
NM_001243730.1:c.*115del
NP_001230659.1:n.*115del
NM_001243731.1:c.*115del
NP_001230660.1:n.*115del
NM_001243732.1:c.*115del
NP_001230661.1:n.*115del
XM_005269054.2:c.*115del
XP_005269111.1:n.*115del
XM_005269055.2:c.*115del
XP_005269112.1:n.*115del
XM_005269056.2:c.*115del
XP_005269113.1:n.*115del
XM_005269057.1:c.*115del
XP_005269114.1:n.*115del
XM_011538628.1:c.*115del
XP_011536930.1:n.*115del
XM_024449112.1:c.*115del
XP_024304880.1:n.*115del
XM_024449113.1:c.*115del
XP_024304881.1:n.*115del
XM_024449114.1:c.*115del
XP_024304882.1:n.*115del
NM_000966.6:c.*115del
MANE Select
NP_000957.1:n.*115del
NM_001042728.3:c.*115del
NP_001036193.1:n.*115del
NM_001243731.2:c.*115del
NP_001230660.1:n.*115del
NM_001243732.2:c.*115del
NP_001230661.1:n.*115del
NM_001243730.2:c.*115del
NP_001230659.1:n.*115del