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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.40819075_40819092delinsTGGCCGCCGCCGGAGCTT , CM000679.2:g.40819075_40819092delinsTGGCCGCCGCCGGAGCTT
GRCh38
NC_000017.10:g.38975327_38975344delinsTGGCCGCCGCCGGAGCTT , CM000679.1:g.38975327_38975344delinsTGGCCGCCGCCGGAGCTT
GRCh37
NC_000017.9:g.36228853_36228870delinsTGGCCGCCGCCGGAGCTT
NCBI36
NG_008405.1:g.8520_8537delinsAAGCTCCGGCGGCGGCCA
NG_033147.1:g.4984_5001delinsTGGCCGCCGCCGGAGCTT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269576.6:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
MANE Select
ENSP00000269576.5:p.Gly481=
ENST00000635956.2:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
ENSP00000490524.2:p.Gly481=
ENST00000269576.5:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
ENSP00000269576.5:p.Gly481=
NM_000421.3:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
NP_000412.3:p.Gly481=
XM_005257343.2:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
XP_005257400.1:p.Gly481=
XM_005257343.3:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
XP_005257400.1:p.Gly481=
NM_000421.4:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
NP_000412.3:p.Gly481=
NM_000421.5:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
MANE Select
NP_000412.4:p.Gly481=
NM_001379366.1:c.1443_1460delinsAAGCTCCGGCGGCGGCCA
NP_001366295.1:p.Gly481=