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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_000017.11:g.40819065_40819092delinsGCCGCCGCCGTGGCCGCCGCCGGAGCTT , CM000679.2:g.40819065_40819092delinsGCCGCCGCCGTGGCCGCCGCCGGAGCTT
GRCh38
NC_000017.10:g.38975317_38975344delinsGCCGCCGCCGTGGCCGCCGCCGGAGCTT , CM000679.1:g.38975317_38975344delinsGCCGCCGCCGTGGCCGCCGCCGGAGCTT
GRCh37
NC_000017.9:g.36228843_36228870delinsGCCGCCGCCGTGGCCGCCGCCGGAGCTT
NCBI36
NG_008405.1:g.8520_8547delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
NG_033147.1:g.4974_5001delinsGCCGCCGCCGTGGCCGCCGCCGGAGCTT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269576.6:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
MANE Select
ENSP00000269576.5:p.Gly481=
ENST00000635956.2:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
ENSP00000490524.2:p.Gly481=
ENST00000269576.5:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
ENSP00000269576.5:p.Gly481=
NM_000421.3:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
NP_000412.3:p.Gly481=
XM_005257343.2:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
XP_005257400.1:p.Gly481=
XM_005257343.3:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
XP_005257400.1:p.Gly481=
NM_000421.4:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
NP_000412.3:p.Gly481=
NM_000421.5:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
MANE Select
NP_000412.4:p.Gly481=
NM_001379366.1:c.1443_1470delinsAAGCTCCGGCGGCGGCCACGGCGGCGGC
NP_001366295.1:p.Gly481=