Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919802_89920805del	CA916083514	MC1R	c.544_593del (n.[c.544_593del;Tyr182LeufsTer?]) c.544_*17del c.544_1098+68del	ClinVar
16	g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA	CA2242009630	MC1R	c.544_590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=]) c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
16	g.89919803_89920802del	CA658798660	MC1R	c.545_590del (n.[c.545_590del;Tyr182CysfsTer8]) c.545_*14del c.545_1098+65del	ClinVar dbSNP
16	g.89920111_89920139delinsGCCCTCATCATCTGCAATGCCATCATCGA	CA2242009841	MC1R	c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA (p.Ala285=)
16	g.89920115_89920142del	CA624455327	MC1R	c.857_884del (p.Leu286ProfsTer19)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920138G>A	CA8255792	MC1R	c.880G>A (p.Asp294Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89920138G>C	CA123861	MC1R	c.880G>C (p.Asp294His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920138G=	CA2242009862	MC1R	c.880G= (p.Asp294=)
16	g.89920138G>T	CA397463671	MC1R	c.880G>T (p.Asp294Tyr)	ClinVar
16	g.89920139A=	CA2242009863	MC1R	c.881A= (p.Asp294=)
16	g.89920139A>C	CA397463673	MC1R	c.881A>C (p.Asp294Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920139A>G	CA397463681	MC1R	c.881A>G (p.Asp294Gly)
16	g.89920139A>T	CA397463682	MC1R	c.881A>T (p.Asp294Val)	gnomAD v4
16	g.89920139_89920140delinsAC	CA2242009864	MC1R	c.881_882delinsAC (p.Asp294=)
16	g.89920140C>A	CA397463692	MC1R	c.882C>A (p.Asp294Glu)
16	g.89920140C=	CA2242009866	MC1R	c.882C= (p.Asp294=)
16	g.89920140C>G	CA397463687	MC1R	c.882C>G (p.Asp294Glu)
16	g.89920140C>T	CA8255793	MC1R	c.882C>T (p.Asp294=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920144del	CA2242009865	MC1R	c.886del (p.Leu296SerfsTer18)	dbSNP
16	g.89920141C>A	CA397463694	MC1R	c.883C>A (p.Pro295Thr)
16	g.89920141C=	CA2242009867	MC1R	c.883C= (p.Pro295=)
16	g.89920141C>G	CA397463697	MC1R	c.883C>G (p.Pro295Ala)	ClinVar dbSNP
16	g.89920141C>T	CA286607714	MC1R	c.883C>T (p.Pro295Ser)	ClinVar dbSNP gnomAD v4
16	g.89920142C>A	CA397463700	MC1R	c.884C>A (p.Pro295His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920142C=	CA2242009868	MC1R	c.884C= (p.Pro295=)
16	g.89920142C>G	CA397463702	MC1R	c.884C>G (p.Pro295Arg)
16	g.89920142C>T	CA397463703	MC1R	c.884C>T (p.Pro295Leu)	gnomAD v4
16	g.89920143C>A	CA497380602	MC1R	c.885C>A (p.Pro295=)
16	g.89920143C=	CA2242009869	MC1R	c.885C= (p.Pro295=)
16	g.89920143C>G	CA8255794	MC1R	c.885C>G (p.Pro295=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920143C>T	CA497380603	MC1R	c.885C>T (p.Pro295=)
16	g.89920143_89920145delinsCCT	CA2242009870	MC1R	c.885_887delinsCCT (p.Pro295=)
16	g.89920144C>A	CA397463705	MC1R	c.886C>A (p.Leu296Ile)	gnomAD v4
16	g.89920144C=	CA2242009871	MC1R	c.886C= (p.Leu296=)
16	g.89920144C>G	CA397463707	MC1R	c.886C>G (p.Leu296Val)	dbSNP gnomAD v2 gnomAD v4
16	g.89920144C>T	CA397463710	MC1R	c.886C>T (p.Leu296Phe)
16	g.89920145_89920146del	CA624455424	MC1R	c.887_888del (p.Leu296HisfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920145T>A	CA397463712	MC1R	c.887T>A (p.Leu296His)
16	g.89920145T>C	CA397463716	MC1R	c.887T>C (p.Leu296Pro)
16	g.89920145T>G	CA397463721	MC1R	c.887T>G (p.Leu296Arg)
16	g.89920146C>A	CA497380609	MC1R	c.888C>A (p.Leu296=)
16	g.89920146C=	CA2242009872	MC1R	c.888C= (p.Leu296=)
16	g.89920146C>G	CA497380611	MC1R	c.888C>G (p.Leu296=)
16	g.89920146C>T	CA286607717	MC1R	c.888C>T (p.Leu296=)	dbSNP gnomAD v2 gnomAD v4
16	g.89920146_89920147insGAG	CA624455425	MC1R	c.888_889insGAG (p.Leu296_Ile297insGlu)	gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920147A=	CA2242009873	MC1R	c.889A= (p.Ile297=)
16	g.89920147A>C	CA397463732	MC1R	c.889A>C (p.Ile297Leu)
16	g.89920147A>G	CA8255795	MC1R	c.889A>G (p.Ile297Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89920147A>T	CA397463731	MC1R	c.889A>T (p.Ile297Phe)
16	g.89920148T>A	CA397463737	MC1R	c.890T>A (p.Ile297Asn)

Number of alleles fetched