×
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_000009.12:g.104928150_104928187delinsAATTACGGGGTTTTTGCCGGGACTAGTTCCTTTTATAG , CM000671.2:g.104928150_104928187delinsAATTACGGGGTTTTTGCCGGGACTAGTTCCTTTTATAG
GRCh38
NC_000009.11:g.107690431_107690468delinsAATTACGGGGTTTTTGCCGGGACTAGTTCCTTTTATAG , CM000671.1:g.107690431_107690468delinsAATTACGGGGTTTTTGCCGGGACTAGTTCCTTTTATAG
GRCh37
NC_000009.10:g.106730252_106730289delinsAATTACGGGGTTTTTGCCGGGACTAGTTCCTTTTATAG
NCBI36
NG_007981.1:g.4969_5006delinsCTATAAAAGGAACTAGTCCCGGCAAAAACCCCGTAATT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374736.7:c.-345_-308delinsCTATAAAAGGAACTAGTCCCGGCAAAAACCCCGTAATT
ENSP00000363868.3:n.-345_-308delinsCTATAAAAGGAACTAGTCCCGGCAAA...
NM_005502.3:c.-345_-308delinsCTATAAAAGGAACTAGTCCCGGCAAAAACCCCGTAATT
NP_005493.2:n.-345_-308delinsCTATAAAAGGAACTAGTCCCGGCAAAAACCCC...
XM_011518342.1:c.-408_-371delinsCTATAAAAGGAACTAGTCCCGGCAAAAACCCCGTAATT
XP_011516644.1:n.-408_-371delinsCTATAAAAGGAACTAGTCCCGGCAAAAAC...
XR_930204.1:n.734+240_734+277delinsAATTACGGGGTTTTTGCCGGGACTAGTTCCTTTTATAG
XM_011518342.3:c.-408_-371delinsCTATAAAAGGAACTAGTCCCGGCAAAAACCCCGTAATT
XP_011516644.1:n.-408_-371delinsCTATAAAAGGAACTAGTCCCGGCAAAAAC...
XR_930204.2:n.115+240_115+277delinsAATTACGGGGTTTTTGCCGGGACTAGTTCCTTTTATAG