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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.11267961_11268024delinsCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCT , CM000674.2:g.11267961_11268024delinsCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCT
GRCh38
NC_000012.11:g.11420895_11420958delinsCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCT , CM000674.1:g.11420895_11420958delinsCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCT
GRCh37
NC_000012.10:g.11312162_11312225delinsCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCT
NCBI36
NG_013305.2:g.6684_6747delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000538488.3:c.225_288delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
MANE Select
ENSP00000442626.2:p.Pro75=
ENST00000381842.7:c.225_288delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
ENSP00000371264.3:p.Pro75=
ENST00000538488.2:c.225_288delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
ENSP00000442626.2:p.Pro75=
ENST00000539835.1:n.232_295delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
NM_006249.5:c.225_288delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
NP_006240.4:p.Pro75=
NM_001394862.1:c.225_288delinsAGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCGTCCG
MANE Select
NP_001381791.1:p.Pro75=