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.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.5226989_5227002delinsGGCAGACTTCTCCT	CA1949570876	HBB	c.20_33delinsAGGAGAAGTCTGCC (p.Glu7=) n.71_84delinsAGGAGAAGTCTGCC
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.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.5227001_5227003del	CA124997	HBB	c.22_24del (p.Glu8del) n.73_75del	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.5227000_5227044dup	CA916083224	HBB	c.-22_23dup (p.Glu8AspfsTer2) c.-18-4_23dup n.30_74dup	ClinVar dbSNP
11	g.5227001_5227002delinsCT	CA1949571029	HBB	c.20_21delinsAG (p.Glu7=) n.71_72delinsAG
11	g.5227002del	CA125285	HBB	c.20del (p.Glu7GlyfsTer13) n.71del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.5227002T>A	CA125138	HBB	c.20A>T (p.Glu7Val) n.71A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.5227002T>C	CA217115521	HBB	c.20A>G (p.Glu7Gly) n.71A>G	dbSNP
11	g.5227002T>G	CA124861	HBB	c.20A>C (p.Glu7Ala) n.71A>C	ClinVar dbSNP gnomAD v4
11	g.5227002T=	CA1949571050	HBB	c.20A= (p.Glu7=) n.71A=
11	g.5227002_5227003delinsAT	CA342851	HBB	c.19_20delinsAT (p.Glu7Met) n.70_71delinsAT	ClinVar dbSNP
11	g.5227002_5227003delinsTC	CA1949571047	HBB	c.19_20delinsGA (p.Glu7=) n.70_71delinsGA
11	g.5227002_5227004delinsTCA	CA1949571042	HBB	c.18_20delinsTGA (p.Pro6=) n.69_71delinsTGA
11	g.5227003del	CA2695213074	HBB	c.19del (p.Glu7ArgfsTer13) n.70del
11	g.5227003C>A	CA379274985	HBB	c.19G>T (p.Glu7Ter) n.70G>T	ClinVar dbSNP gnomAD v4
11	g.5227003C=	CA1949571074	HBB	c.19G= (p.Glu7=) n.70G=
11	g.5227003C>G	CA124989	HBB	c.19G>C (p.Glu7Gln) n.70G>C	ClinVar dbSNP
11	g.5227003C>T	CA124780	HBB	c.19G>A (p.Glu7Lys) n.70G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.5227003_5227004del	CA217115534	HBB	c.18_19del (p.Glu7GlyfsTer16) n.69_70del	ClinVar dbSNP
11	g.5227003_5227005delinsCAG	CA1949571081	HBB	c.17_19delinsCTG (p.Pro6=) n.68_70delinsCTG
11	g.5227003_5227007delinsAAGAT	CA2580615627	HBB	c.15_19delinsATCTT (p.Thr6SerfsTer2) n.66_70delinsATCTT	ClinVar
11	g.5227004A>C	CA472885728	HBB	c.18T>G (p.Pro6=) n.69T>G
11	g.5227004A>G	CA472885730	HBB	c.18T>C (p.Pro6=) n.69T>C	ClinVar dbSNP gnomAD v4
11	g.5227004A>T	CA472885727	HBB	c.18T>A (p.Pro6=) n.69T>A
11	g.5227004_5227005del	CA125288	HBB	c.17_18del (p.Pro6ArgfsTer17) n.68_69del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.5227004_5227005delinsAG	CA1949571090	HBB	c.17_18delinsCT (p.Pro6=) n.68_69delinsCT
11	g.5227004_5227005insCT	CA2612162295	HBB	c.17_18insAG (p.Glu7ValfsTer14) n.68_69insAG	gnomAD v4

Number of alleles fetched