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

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
Y	g.6909863T>C	CA2553021485	AMELY,TBL1Y	c.-113+1810A>G (n.-113+1810A>G) c.-591T>C (n.-591T>C)
Y	g.6909868C>G	CA1138838570	AMELY,TBL1Y	c.-113+1805G>C (n.-113+1805G>C) c.-586C>G (n.-586C>G)	gnomAD v3 gnomAD v4
Y	g.6909882T>C	CA1138838581	AMELY,TBL1Y	c.-113+1791A>G (n.-113+1791A>G) c.-572T>C (n.-572T>C)	gnomAD v3 gnomAD v4
Y	g.6909882dup	CA1138838573	AMELY,TBL1Y	c.-113+1791dup (n.-113+1791dup) c.-572dup (n.-572dup)	gnomAD v3 gnomAD v4
Y	g.6909905T>A	CA1138838586	AMELY,TBL1Y	c.-113+1768A>T (n.-113+1768A>T) c.-549T>A (n.-549T>A)	gnomAD v3 gnomAD v4
Y	g.6909907T=	CA2469905904	AMELY,TBL1Y	c.-113+1766A= (n.-113+1766A=) c.-547T= (n.-547T=)
Y	g.6909912dup	CA337551803	AMELY,TBL1Y	c.-113+1765dup (n.-113+1765dup) c.-542dup (n.-542dup)	dbSNP
Y	g.6909921A=	CA2469905905	AMELY,TBL1Y	c.-113+1752T= (n.-113+1752T=) c.-533A= (n.-533A=)
Y	g.6909921A>G	CA337551804	AMELY,TBL1Y	c.-113+1752T>C (n.-113+1752T>C) c.-533A>G (n.-533A>G)	dbSNP gnomAD v3 gnomAD v4
Y	g.6909930C>G	CA1138838588	AMELY,TBL1Y	c.-113+1743G>C (n.-113+1743G>C) c.-524C>G (n.-524C>G)	gnomAD v3 gnomAD v4
Y	g.6909939G>C	CA337551805	AMELY,TBL1Y	c.-113+1734C>G (n.-113+1734C>G) c.-515G>C (n.-515G>C)	dbSNP gnomAD v3 gnomAD v4
Y	g.6909939G=	CA2469905906	AMELY,TBL1Y	c.-113+1734C= (n.-113+1734C=) c.-515G= (n.-515G=)
Y	g.6909951G>T	CA1138838638	AMELY,TBL1Y	c.-113+1722C>A (n.-113+1722C>A) c.-503G>T (n.-503G>T)	gnomAD v3 gnomAD v4

Number of alleles fetched