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.5226979G>A	CA472885862	HBB	c.43C>T (p.Leu15=) n.94C>T
11	g.5226979G>C	CA379274900	HBB	c.43C>G (p.Leu15Val) n.94C>G	dbSNP
11	g.5226979G=	CA1949570773	HBB	c.43C= (p.Leu15=) n.94C=
11	g.5226979G>T	CA379274898	HBB	c.43C>A (p.Leu15Met) n.94C>A
11	g.5226981del	CA2695213068	HBB	c.43del (p.Leu15CysfsTer5) n.94del
11	g.5226980G>A	CA472885863	HBB	c.42C>T (p.Ala14=) n.93C>T
11	g.5226980G>C	CA472885864	HBB	c.42C>G (p.Ala14=) n.93C>G
11	g.5226980G>T	CA472885865	HBB	c.42C>A (p.Ala14=) n.93C>A
11	g.5226985_5226993del	CA2695213069	HBB	c.34_42del (p.Val12_Ala14del) n.85_93del
11	g.5226981G>A	CA379274902	HBB	c.41C>T (p.Ala14Val) n.92C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.5226981G>C	CA379274904	HBB	c.41C>G (p.Ala14Gly) n.92C>G	dbSNP
11	g.5226981G=	CA1949570780	HBB	c.41C= (p.Ala14=) n.92C=
11	g.5226981G>T	CA124955	HBB	c.41C>A (p.Ala14Asp) n.92C>A	ClinVar dbSNP COSMIC
11	g.5226982C>A	CA5839817	HBB	c.40G>T (p.Ala14Ser) n.91G>T	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11	g.5226982C=	CA1949570791	HBB	c.40G= (p.Ala14=) n.91G=
11	g.5226982C>G	CA379274907	HBB	c.40G>C (p.Ala14Pro) n.91G>C
11	g.5226982C>T	CA379274909	HBB	c.40G>A (p.Ala14Thr) n.91G>A	ClinVar dbSNP
11	g.5226983A=	CA1949570801	HBB	c.39T= (p.Thr13=) n.90T=
11	g.5226983A>C	CA472885866	HBB	c.39T>G (p.Thr13=) n.90T>G
11	g.5226983A>G	CA472885867	HBB	c.39T>C (p.Thr13=) n.90T>C	ClinVar dbSNP
11	g.5226983A>T	CA472885868	HBB	c.39T>A (p.Thr13=) n.90T>A
11	g.5226983_5226984insAG	CA2612162294	HBB	c.38_39insCT (p.Ala14LeufsTer7) n.89_90insCT	gnomAD v4
11	g.5226984G>A	CA379274915	HBB	c.38C>T (p.Thr13Ile) n.89C>T	gnomAD v4
11	g.5226984G>C	CA379274912	HBB	c.38C>G (p.Thr13Ser) n.89C>G
11	g.5226984G=	CA1949570813	HBB	c.38C= (p.Thr13=) n.89C=
11	g.5226984G>T	CA379274911	HBB	c.38C>A (p.Thr13Asn) n.89C>A	dbSNP
11	g.5226985T>A	CA379274917	HBB	c.37A>T (p.Thr13Ser) n.88A>T	dbSNP
11	g.5226985T>C	CA379274919	HBB	c.37A>G (p.Thr13Ala) n.88A>G
11	g.5226985T>G	CA379274921	HBB	c.37A>C (p.Thr13Pro) n.88A>C
11	g.5226985T=	CA1949570820	HBB	c.37A= (p.Thr13=) n.88A=
11	g.5226985_5226986delinsTA	CA1949570822	HBB	c.36_37delinsTA (p.Val12=) n.87_88delinsTA

Number of alleles fetched