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.5226800_5226991del	CA2695213056	HBB	c.33_94del n.84_145del c.33_78del
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.5226957_5226960del	CA2695213064	HBB	c.64_67del (p.Asp22LysfsTer?) n.115_118del c.64_67del (p.Asp22LysfsTer16)
11	g.5226955_5226969delinsCATCCACGTTCACCT	CA1949570517	HBB	c.53_67delinsAGGTGAACGTGGATG (p.Lys18=) n.104_118delinsAGGTGAACGTGGATG
11	g.5226956_5226969del	CA934688341	HBB	c.53_66del (p.Lys18ArgfsTer5) n.104_117del c.53_66del (p.Lys18ArgfsTer?)	dbSNP gnomAD v3 gnomAD v4
11	g.5226960A=	CA1949570577	HBB	c.62T= (p.Val21=) n.113T=
11	g.5226960A>C	CA217115308	HBB	c.62T>G (p.Val21Gly) n.113T>G	dbSNP
11	g.5226960A>G	CA379274830	HBB	c.62T>C (p.Val21Ala) n.113T>C	dbSNP
11	g.5226960A>T	CA125418	HBB	c.62T>A (p.Val21Glu) n.113T>A	ClinVar dbSNP
11	g.5226961C>A	CA217115318	HBB	c.61G>T (p.Val21Leu) n.112G>T	dbSNP
11	g.5226961C=	CA1949570585	HBB	c.61G= (p.Val21=) n.112G=
11	g.5226961C>G	CA379274834	HBB	c.61G>C (p.Val21Leu) n.112G>C	dbSNP gnomAD v4
11	g.5226961C>T	CA125086	HBB	c.61G>A (p.Val21Met) n.112G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11	g.5226962G>A	CA5839815	HBB	c.60C>T (p.Asn20=) n.111C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.5226962G>C	CA217115328	HBB	c.60C>G (p.Asn20Lys) n.111C>G	dbSNP
11	g.5226962G=	CA1949570596	HBB	c.60C= (p.Asn20=) n.111C=
11	g.5226962G>T	CA124826	HBB	c.60C>A (p.Asn20Lys) n.111C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.5226962_5226968delinsGTTCACC	CA1949570595	HBB	c.54_60delinsGGTGAAC (p.Lys18=) n.105_111delinsGGTGAAC
11	g.5226963T>A	CA379274841	HBB	c.59A>T (p.Asn20Ile) n.110A>T
11	g.5226963T>C	CA125015	HBB	c.59A>G (p.Asn20Ser) n.110A>G	ClinVar dbSNP
11	g.5226963T>G	CA379274843	HBB	c.59A>C (p.Asn20Thr) n.110A>C
11	g.5226963T=	CA1949570602	HBB	c.59A= (p.Asn20=) n.110A=
11	g.5226965_5226970del	CA125005	HBB	c.54_59del (p.Lys18_Val19del) n.105_110del	ClinVar dbSNP
11	g.5226964T>A	CA379274848	HBB	c.58A>T (p.Asn20Tyr) n.109A>T
11	g.5226964T>C	CA124718	HBB	c.58A>G (p.Asn20Asp) n.109A>G	ClinVar dbSNP
11	g.5226964T>G	CA379274847	HBB	c.58A>C (p.Asn20His) n.109A>C
11	g.5226964T=	CA1949570612	HBB	c.58A= (p.Asn20=) n.109A=
11	g.5226965C>A	CA472885854	HBB	c.57G>T (p.Val19=) n.108G>T
11	g.5226965C=	CA1949570618	HBB	c.57G= (p.Val19=) n.108G=
11	g.5226965C>G	CA472885855	HBB	c.57G>C (p.Val19=) n.108G>C
11	g.5226965C>T	CA472885856	HBB	c.57G>A (p.Val19=) n.108G>A	ClinVar dbSNP
11	g.5226966A=	CA1949570624	HBB	c.56T= (p.Val19=) n.107T=
11	g.5226966A>C	CA217115344	HBB	c.56T>G (p.Val19Gly) n.107T>G	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.5226966A>G	CA379274851	HBB	c.56T>C (p.Val19Ala) n.107T>C
11	g.5226966A>T	CA379274853	HBB	c.56T>A (p.Val19Glu) n.107T>A

Number of alleles fetched