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.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCT	CA1949570725	HBB	c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT (p.Glu7=) n.71_97delinsAGGAGAAGTCTGCCGTTACTGCCCTGT
11	g.5226981_5227006del	CA916083214	HBB	c.20_45del (p.Glu7ValfsTer8) n.71_96del	ClinVar dbSNP
11	g.5226985_5226993del	CA2695213069	HBB	c.34_42del (p.Val12_Ala14del) n.85_93del
11	g.5226989_5227001del	CA2695213070	HBB	c.22_34del (p.Glu8LeufsTer8) n.73_85del
11	g.5226990dup	CA645509065	HBB	c.33dup (p.Val12ArgfsTer12) n.84dup	ClinVar dbSNP
11	g.5226990del	CA916083217	HBB	c.33del (p.Val12LeufsTer8) n.84del	ClinVar dbSNP
11	g.5226989_5227002delinsGGCAGACTTCTCCT	CA1949570876	HBB	c.20_33delinsAGGAGAAGTCTGCC (p.Glu7=) n.71_84delinsAGGAGAAGTCTGCC
11	g.5226990G>A	CA125466	HBB	c.32C>T (p.Ala11Val) n.83C>T	ClinVar dbSNP gnomAD v4
11	g.5226990G>C	CA379274937	HBB	c.32C>G (p.Ala11Gly) n.83C>G
11	g.5226990G=	CA1949570892	HBB	c.32C= (p.Ala11=) n.83C=
11	g.5226990G>T	CA124726	HBB	c.32C>A (p.Ala11Asp) n.83C>A	ClinVar dbSNP
11	g.5226990_5227002del	CA916083218	HBB	c.20_32del (p.Glu7AlafsTer9) n.71_83del	ClinVar dbSNP
11	g.5226990_5227095delinsGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGA	CA1949570884	HBB	c.-74_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC c.-18-56_32delinsTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGC
11	g.5226991C>A	CA379274940	HBB	c.31G>T (p.Ala11Ser) n.82G>T
11	g.5226991C=	CA1949570904	HBB	c.31G= (p.Ala11=) n.82G=
11	g.5226991C>G	CA379274941	HBB	c.31G>C (p.Ala11Pro) n.82G>C
11	g.5226991C>T	CA217115444	HBB	c.31G>A (p.Ala11Thr) n.82G>A	ClinVar dbSNP gnomAD v4
11	g.5226992_5227096del	CA916083219	HBB	c.-74_31del c.-18-56_31del	ClinVar dbSNP
11	g.5226992A=	CA1949570917	HBB	c.30T= (p.Ser10=) n.81T=
11	g.5226992A>C	CA472885714	HBB	c.30T>G (p.Ser10=) n.81T>G	dbSNP gnomAD v3 gnomAD v4
11	g.5226992A>G	CA472885716	HBB	c.30T>C (p.Ser10=) n.81T>C
11	g.5226992A>T	CA472885715	HBB	c.30T>A (p.Ser10=) n.81T>A
11	g.5226992dup	CA217115449	HBB	c.30dup (p.Ala11CysfsTer13) n.81dup	ClinVar dbSNP
11	g.5226993G>A	CA379274946	HBB	c.29C>T (p.Ser10Phe) n.80C>T
11	g.5226993G>C	CA125110	HBB	c.29C>G (p.Ser10Cys) n.80C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11	g.5226993G=	CA1949570926	HBB	c.29C= (p.Ser10=) n.80C=
11	g.5226993G>T	CA125538	HBB	c.29C>A (p.Ser10Tyr) n.80C>A	ClinVar dbSNP
11	g.5226995_5227524del	CA2739276176	HBB	c.-29_29del	ClinVar
11	g.5226993_5227525delinsGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGAT	CA1949570927	HBB	c.-32_29delinsATCCATTCTGTCCTGTAAGTATTTTGCATATTCTGGAGACGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTC
11	g.5226993_5226994insTA	CA916083220	HBB	c.28_29insTA (p.Ser10LeufsTer11) n.79_80insTA	ClinVar dbSNP
11	g.5226994A=	CA1949570940	HBB	c.28T= (p.Ser10=) n.79T=
11	g.5226994A>C	CA379274949	HBB	c.28T>G (p.Ser10Ala) n.79T>G	dbSNP
11	g.5226994A>G	CA379274951	HBB	c.28T>C (p.Ser10Pro) n.79T>C

Number of alleles fetched