Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.5224303_5227790del	CA2499220996			ClinVar
11	g.5225158_5227199delinsCTTAT	CA916083168			ClinVar
11	g.5225895_5227411delinsT	CA916083175			ClinVar
11	g.5226164_5227556del	CA916083178			ClinVar
11	g.5226452_5228055del	CA916083180			ClinVar
11	g.5226570_5233984del	CA124670			ClinVar
11	g.5226638_5234052del	CA124669			ClinVar
11	g.5226641_5227549del	CA916083189	HBB	c.-56_251del	ClinVar
11	g.5226755_5227283del	CA2499221076	HBB	c.-19+234_142del	ClinVar
11	g.5226904_5227197delinsACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCG	CA1949570069	HBB	c.-176_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT c.-18-158_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT
11	g.5226905_5227197del	CA891862904	HBB	c.-176_92+25del c.-18-158_92+25del	ClinVar dbSNP
11	g.5226914_5234326del	CA124673			ClinVar
11	g.5226929_5227071delinsCCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGT	CA1949570216	HBB	c.-50_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-18-32_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG n.2_143+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-50_76+17delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG
11	g.5226930_5227071del	CA1139661798	HBB	c.-50_92del c.-18-32_92del n.2_143del c.-50_76+16del	ClinVar dbSNP
11	g.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC	CA1949570429	HBB	c.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT
11	g.5226948_5227485del	CA916083211	HBB	c.-19+27_74del	ClinVar dbSNP
11	g.5226990_5227095delinsGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGA	CA1949570884	HBB	c.-74_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC c.-18-56_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC
11	g.5226992_5227096del	CA916083219	HBB	c.-74_31del c.-18-56_31del	ClinVar dbSNP
11	g.5226995_5227524del	CA2739276176	HBB	c.-29_29del	ClinVar
11	g.5226993_5227525delinsGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGAT	CA1949570927	HBB	c.-32_29delinsATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTC
11	g.5226994_5227525del	CA916083221	HBB	c.-32_28del	ClinVar dbSNP
11	g.5227000_5227044dup	CA916083224	HBB	c.-22_23dup (p.Glu8AspfsTer2) c.-18-4_23dup n.30_74dup	ClinVar dbSNP
11	g.5227020A=	CA1949571301	HBB	c.2T= (p.Met1=) n.53T=
11	g.5227020A>C	CA125299	HBB	c.2T>G (p.Met1Arg) n.53T>G	ClinVar dbSNP gnomAD v4
11	g.5227020A>G	CA125301	HBB	c.2T>C (p.Met1Thr) n.53T>C	ClinVar dbSNP gnomAD v4
11	g.5227020A>T	CA217115650	HBB	c.2T>A (p.Met1Lys) n.53T>A	ClinVar dbSNP gnomAD v4
11	g.5227021T>A	CA379275047	HBB	c.1A>T (p.Met1Leu) n.52A>T
11	g.5227021T>C	CA217115654	HBB	c.1A>G (p.Met1Val) n.52A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.5227021T>G	CA379275050	HBB	c.1A>C (p.Met1Leu) n.52A>C	ClinVar dbSNP gnomAD v4
11	g.5227021T=	CA1949571311	HBB	c.1A= (p.Met1=) n.52A=
11	g.5227022G>A	CA2579829134	HBB	c.-1C>T (n.-1C>T) n.51C>T	gnomAD v4
11	g.5227022G>C	CA2579829199	HBB	c.-1C>G (n.-1C>G) n.51C>G
11	g.5227022G=	CA2579829044	HBB	c.-1C= (n.-1C=) n.51C=
11	g.5227022G>T	CA2579829282	HBB	c.-1C>A (n.-1C>A) n.51C>A	gnomAD v4
11	g.5227023del	CA2612162298	HBB	c.-1del (n.-1del) n.51del	gnomAD v4
11	g.5227023G>A	CA2579829356	HBB	c.-2C>T (n.-2C>T) n.50C>T	gnomAD v4
11	g.5227023G>C	CA2579829440	HBB	c.-2C>G (n.-2C>G) n.50C>G
11	g.5227023G>T	CA2579829469	HBB	c.-2C>A (n.-2C>A) n.50C>A	gnomAD v4
11	g.5227024T>A	CA2579829477	HBB	c.-3A>T (n.-3A>T) n.49A>T
11	g.5227024T>C	CA1949571316	HBB	c.-3A>G (n.-3A>G) n.49A>G	dbSNP gnomAD v4
11	g.5227024T>G	CA2579829045	HBB	c.-3A>C (n.-3A>C) n.49A>C	gnomAD v4
11	g.5227024T=	CA1949571314	HBB	c.-3A= (n.-3A=) n.49A=
11	g.5227025G>A	CA217115664	HBB	c.-4C>T (n.-4C>T) n.48C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.5227025G>C	CA2579829061	HBB	c.-4C>G (n.-4C>G) n.48C>G
11	g.5227025G=	CA1949571319	HBB	c.-4C= (n.-4C=) n.48C=
11	g.5227025G>T	CA2579829072	HBB	c.-4C>A (n.-4C>A) n.48C>A	gnomAD v4
11	g.5227026T>A	CA1949571332	HBB	c.-5A>T (n.-5A>T) n.47A>T	dbSNP
11	g.5227026T>C	CA2574735707	HBB	c.-5A>G (n.-5A>G) n.47A>G	gnomAD v4
11	g.5227026T>G	CA2579829101	HBB	c.-5A>C (n.-5A>C) n.47A>C
11	g.5227026T=	CA1949571329	HBB	c.-5A= (n.-5A=) n.47A=

Number of alleles fetched