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.5226941_5226953delinsCTCACCACCAACT	CA1949570359	HBB	c.69_81delinsAGTTGGTGGTGAG (p.Glu23=) n.120_132delinsAGTTGGTGGTGAG c.69_76+5delinsAGTTGGTGGTGAG
11	g.5226945_5226956del	CA217115169	HBB	c.69_80del (p.Val24_Glu27del) n.120_131del c.69_76+4del	dbSNP
11	g.5226948_5226950del	CA125416	HBB	c.77_79del (p.Gly26del) n.128_130del c.76+1_76+3del	dbSNP
11	g.5226947_5226954del	CA2695213061	HBB	c.68_75del (p.Glu23GlyfsTer2) n.119_126del c.68_75del (p.Glu23GlyfsTer?)
11	g.5226947_5226954delinsACCAACTT	CA1949570426	HBB	c.68_75delinsAAGTTGGT (p.Glu23=) n.119_126delinsAAGTTGGT
11	g.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC	CA1949570429	HBB	c.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT
11	g.5226949del	CA916083210	HBB	c.74del (p.Gly25ValfsTer?) n.125del c.74del (p.Gly25ValfsTer14)	ClinVar dbSNP
11	g.5226948_5226951delinsCCAA	CA1949570442	HBB	c.71_74delinsTTGG (p.Val24=) n.122_125delinsTTGG
11	g.5226949_5226955del	CA217115218	HBB	c.68_74del (p.Glu23ValfsTer?) n.119_125del c.68_74del (p.Glu23ValfsTer14)	ClinVar dbSNP
11	g.5226948_5227485del	CA916083211	HBB	c.-19+27_74del	ClinVar dbSNP
11	g.5226949C>A	CA379274799	HBB	c.73G>T (p.Gly25Cys) n.124G>T
11	g.5226949C=	CA1949570452	HBB	c.73G= (p.Gly25=) n.124G=
11	g.5226949C>G	CA125128	HBB	c.73G>C (p.Gly25Arg) n.124G>C	ClinVar dbSNP
11	g.5226949C>T	CA379274801	HBB	c.73G>A (p.Gly25Ser) n.124G>A	COSMIC
11	g.5226949delinsGTG	CA2695213062	HBB	c.73delinsCAC (p.Gly25HisfsTer?) n.124delinsCAC c.73delinsCAC (p.Gly25HisfsTer15)
11	g.5226950_5226952del	CA124843	HBB	c.71_73del (p.Val24del) n.122_124del	ClinVar dbSNP
11	g.5226950A>C	CA472885847	HBB	c.72T>G (p.Val24=) n.123T>G
11	g.5226950A>G	CA472885848	HBB	c.72T>C (p.Val24=) n.123T>C
11	g.5226950A>T	CA472885849	HBB	c.72T>A (p.Val24=) n.123T>A	ClinVar dbSNP
11	g.5226951A=	CA1949570458	HBB	c.71T= (p.Val24=) n.122T=
11	g.5226951A>C	CA125034	HBB	c.71T>G (p.Val24Gly) n.122T>G	ClinVar dbSNP
11	g.5226951A>G	CA125536	HBB	c.71T>C (p.Val24Ala) n.122T>C	ClinVar dbSNP
11	g.5226951A>T	CA125178	HBB	c.71T>A (p.Val24Asp) n.122T>A	ClinVar dbSNP
11	g.5226952C>A	CA125092	HBB	c.70G>T (p.Val24Phe) n.121G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11	g.5226952C=	CA1949570478	HBB	c.70G= (p.Val24=) n.121G=
11	g.5226952C>G	CA379274808	HBB	c.70G>C (p.Val24Leu) n.121G>C	ClinVar dbSNP
11	g.5226952C>T	CA037454	HBB	c.70G>A (p.Val24Ile) n.121G>A	ClinVar dbSNP
11	g.[5226952C>T;5227002T>A]	CA037472	HBB	c.[20A>T;70G>A] (p.[Glu7Val;Val24Ile]) n.[71A>T;121G>A]	ClinVar
11	g.5226953T>A	CA217115240	HBB	c.69A>T (p.Glu23Asp) n.120A>T	dbSNP gnomAD v4
11	g.5226953T>C	CA217115242	HBB	c.69A>G (p.Glu23=) n.120A>G	dbSNP
11	g.5226953T>G	CA379274811	HBB	c.69A>C (p.Glu23Asp) n.120A>C	COSMIC
11	g.5226953T=	CA1949570492	HBB	c.69A= (p.Glu23=) n.120A=
11	g.5226954T>A	CA124818	HBB	c.68A>T (p.Glu23Val) n.119A>T	ClinVar dbSNP
11	g.5226954T>C	CA124867	HBB	c.68A>G (p.Glu23Gly) n.119A>G	ClinVar dbSNP gnomAD v4
11	g.5226954T>G	CA124853	HBB	c.68A>C (p.Glu23Ala) n.119A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched