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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_000014.9:g.94378269dup , CM000676.2:g.94378269dup
GRCh38
NC_000014.8:g.94844606dup , CM000676.1:g.94844606dup
GRCh37
NC_000014.7:g.93914359dup
NCBI36
NG_008290.1:g.17428dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393087.9:c.*184dup
MANE Select
ENSP00000376802.4:n.*184dup
ENST00000355814.8:c.*184dup
ENSP00000348068.4:n.*184dup
ENST00000437397.5:c.*184dup
ENSP00000408474.1:n.*184dup
ENST00000440909.5:c.*184dup
ENSP00000390299.1:n.*184dup
ENST00000448921.5:c.*184dup
ENSP00000416066.1:n.*184dup
NM_000295.4:c.*184dup
NP_000286.3:n.*184dup
NM_001002235.2:c.*184dup
NP_001002235.1:n.*184dup
NM_001002236.2:c.*184dup
NP_001002236.1:n.*184dup
NM_001127700.1:c.*184dup
NP_001121172.1:n.*184dup
NM_001127701.1:c.*184dup
NP_001121173.1:n.*184dup
NM_001127702.1:c.*184dup
NP_001121174.1:n.*184dup
NM_001127703.1:c.*184dup
NP_001121175.1:n.*184dup
NM_001127704.1:c.*184dup
NP_001121176.1:n.*184dup
NM_001127705.1:c.*184dup
NP_001121177.1:n.*184dup
NM_001127706.1:c.*184dup
NP_001121178.1:n.*184dup
NM_001127707.1:c.*184dup
NP_001121179.1:n.*184dup
NM_000295.5:c.*184dup
MANE Select
NP_000286.3:n.*184dup
NM_001002235.3:c.*184dup
NP_001002235.1:n.*184dup
NM_001002236.3:c.*184dup
NP_001002236.1:n.*184dup
NM_001127700.2:c.*184dup
NP_001121172.1:n.*184dup
NM_001127701.2:c.*184dup
NP_001121173.1:n.*184dup
NM_001127702.2:c.*184dup
NP_001121174.1:n.*184dup
NM_001127703.2:c.*184dup
NP_001121175.1:n.*184dup
NM_001127704.2:c.*184dup
NP_001121176.1:n.*184dup
NM_001127705.2:c.*184dup
NP_001121177.1:n.*184dup
NM_001127706.2:c.*184dup
NP_001121178.1:n.*184dup
NM_001127707.2:c.*184dup
NP_001121179.1:n.*184dup