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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_000001.11:g.215798979_215798980insCCTTACCTGGAAGGCGATTGT , CM000663.2:g.215798979_215798980insCCTTACCTGGAAGGCGATTGT
GRCh38
NC_000001.10:g.215972321_215972322insCCTTACCTGGAAGGCGATTGT , CM000663.1:g.215972321_215972322insCCTTACCTGGAAGGCGATTGT
GRCh37
NC_000001.9:g.214038944_214038945insCCTTACCTGGAAGGCGATTGT
NCBI36
NG_009497.1:g.629417_629418insACAATCGCCTTCCAGGTAAGG
NG_009497.2:g.629469_629470insACAATCGCCTTCCAGGTAAGG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307340.8:c.9885_9886insACAATCGCCTTCCAGGTAAGG
MANE Select
ENSP00000305941.3:p.Cys3295_Gly3296insThrIleAlaPheGlnValArg
ENST00000674083.1:c.9885_9886insACAATCGCCTTCCAGGTAAGG
ENSP00000501296.1:p.Cys3295_Gly3296insThrIleAlaPheGlnValArg
ENST00000307340.7:c.9885_9886insACAATCGCCTTCCAGGTAAGG
ENSP00000305941.3:p.Cys3295_Gly3296insThrIleAlaPheGlnValArg
NM_206933.2:c.9885_9886insACAATCGCCTTCCAGGTAAGG
NP_996816.2:p.Cys3295_Gly3296insThrIleAlaPheGlnValArg
NM_206933.3:c.9885_9886insACAATCGCCTTCCAGGTAAGG
NP_996816.2:p.Cys3295_Gly3296insThrIleAlaPheGlnValArg
NM_206933.4:c.9885_9886insACAATCGCCTTCCAGGTAAGG
MANE Select
NP_996816.3:p.Cys3295_Gly3296insThrIleAlaPheGlnValArg