Allele Registry

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_000006.12:g.134277946_134277947insGAAAAAACAATATTATACTTGCTGTTTAGT , CM000668.2:g.134277946_134277947insGAAAAAACAATATTATACTTGCTGTTTAGT	GRCh38
NC_000006.11:g.134599084_134599085insGAAAAAACAATATTATACTTGCTGTTTAGT , CM000668.1:g.134599084_134599085insGAAAAAACAATATTATACTTGCTGTTTAGT	GRCh37
NC_000006.10:g.134640777_134640778insGAAAAAACAATATTATACTTGCTGTTTAGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367858.10:c.70-15799_70-15798insACTAAACAGCAAGTATAATATTGTTTTTTC MANE Select	ENSP00000356832.5:n.70-15799_70-15798insACTAAACAGCAAGTATAATAT...
ENST00000367858.9:c.70-15799_70-15798insACTAAACAGCAAGTATAATATTGTTTTTTC	ENSP00000356832.5:n.70-15799_70-15798insACTAAACAGCAAGTATAATAT...
ENST00000461976.2:c.-24-15799_-24-15798insACTAAACAGCAAGTATAATATTGTTTTTTC	ENSP00000435577.1:n.-24-15799_-24-15798insACTAAACAGCAAGTATAAT...
ENST00000524929.1:c.70-15799_70-15798insACTAAACAGCAAGTATAATATTGTTTTTTC	ENSP00000435724.1:n.70-15799_70-15798insACTAAACAGCAAGTATAATAT...
ENST00000533224.1:c.70-15799_70-15798insACTAAACAGCAAGTATAATATTGTTTTTTC	ENSP00000436470.1:n.70-15799_70-15798insACTAAACAGCAAGTATAATAT...
NM_001143676.1:c.70-15799_70-15798insACTAAACAGCAAGTATAATATTGTTTTTTC	NP_001137148.1:n.70-15799_70-15798insACTAAACAGCAAGTATAATATTGT...
XM_011536071.1:c.70-15799_70-15798insACTAAACAGCAAGTATAATATTGTTTTTTC	XP_011534373.1:n.70-15799_70-15798insACTAAACAGCAAGTATAATATTGT...
NM_001143676.3:c.70-15799_70-15798insACTAAACAGCAAGTATAATATTGTTTTTTC MANE Select	NP_001137148.1:n.70-15799_70-15798insACTAAACAGCAAGTATAATATTGT...