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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.53211573del , CM000674.2:g.53211573del
GRCh38
NC_000012.11:g.53605357del , CM000674.1:g.53605357del
GRCh37
NC_000012.10:g.51891624del
NCBI36
NG_029822.1:g.25687del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000425354.7:c.*106del
MANE Select
ENSP00000388510.2:n.*106del
ENST00000338561.9:c.*106del
ENSP00000343698.5:n.*106del
ENST00000394426.5:c.*106del
ENSP00000377947.2:n.*106del
ENST00000425354.6:c.*106del
ENSP00000388510.2:n.*106del
ENST00000543726.1:c.*106del
ENSP00000444335.1:n.*106del
ENST00000543762.5:n.1464del
NM_000966.5:c.*106del
NP_000957.1:n.*106del
NM_001042728.2:c.*106del
NP_001036193.1:n.*106del
NM_001243730.1:c.*106del
NP_001230659.1:n.*106del
NM_001243731.1:c.*106del
NP_001230660.1:n.*106del
NM_001243732.1:c.*106del
NP_001230661.1:n.*106del
XM_005269054.2:c.*106del
XP_005269111.1:n.*106del
XM_005269055.2:c.*106del
XP_005269112.1:n.*106del
XM_005269056.2:c.*106del
XP_005269113.1:n.*106del
XM_005269057.1:c.*106del
XP_005269114.1:n.*106del
XM_011538628.1:c.*106del
XP_011536930.1:n.*106del
XM_024449112.1:c.*106del
XP_024304880.1:n.*106del
XM_024449113.1:c.*106del
XP_024304881.1:n.*106del
XM_024449114.1:c.*106del
XP_024304882.1:n.*106del
NM_000966.6:c.*106del
MANE Select
NP_000957.1:n.*106del
NM_001042728.3:c.*106del
NP_001036193.1:n.*106del
NM_001243731.2:c.*106del
NP_001230660.1:n.*106del
NM_001243732.2:c.*106del
NP_001230661.1:n.*106del
NM_001243730.2:c.*106del
NP_001230659.1:n.*106del