Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161101_25161102insAACTCGCCCTTCTTGTAGGC	CA2658163187	POMC	c.802_803insTGCCTACAAGAAGGGCGAGT (p.Ter268LeuextTer?)	gnomAD v4
2	g.25161086_25161098delinsCGCCCTTCTTGTA	CA1239226800	POMC	c.787_799delinsTACAAGAAGGGCG (p.Tyr263=)
2	g.25161088_25161099del	CA43684282	POMC	c.787_798del (p.Tyr263_Gly266del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161090C>A	CA346064770	POMC	c.795G>T (p.Lys265Asn)
2	g.25161090C=	CA1239226818	POMC	c.795G= (p.Lys265=)
2	g.25161090C>G	CA346064772	POMC	c.795G>C (p.Lys265Asn)
2	g.25161090C>T	CA1555213	POMC	c.795G>A (p.Lys265=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.25161090_25161102delinsCTTCTTGTAGGCG	CA1239226820	POMC	c.783_795delinsCGCCTACAAGAAG (p.Asn261=)
2	g.25161091T>A	CA346066008	POMC	c.794A>T (p.Lys265Met)
2	g.25161091T>C	CA346066013	POMC	c.794A>G (p.Lys265Arg)
2	g.25161091T>G	CA346066015	POMC	c.794A>C (p.Lys265Thr)
2	g.25161097_25161108del	CA531760826	POMC	c.783_794del (p.Asn261_Lys264del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161092T>A	CA346066019	POMC	c.793A>T (p.Lys265Ter)
2	g.25161092T>C	CA346066018	POMC	c.793A>G (p.Lys265Glu)
2	g.25161092T>G	CA346066017	POMC	c.793A>C (p.Lys265Gln)
2	g.25161093C>A	CA346066022	POMC	c.792G>T (p.Lys264Asn)
2	g.25161093C=	CA1239226826	POMC	c.792G= (p.Lys264=)
2	g.25161093C>G	CA346066024	POMC	c.792G>C (p.Lys264Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.25161093C>T	CA425352822	POMC	c.792G>A (p.Lys264=)
2	g.25161094T>A	CA346066025	POMC	c.791A>T (p.Lys264Met)
2	g.25161094T>C	CA346066026	POMC	c.791A>G (p.Lys264Arg)	dbSNP
2	g.25161094T>G	CA346066029	POMC	c.791A>C (p.Lys264Thr)
2	g.25161094T=	CA1239226830	POMC	c.791A= (p.Lys264=)
2	g.25161095T>A	CA346066031	POMC	c.790A>T (p.Lys264Ter)
2	g.25161095T>C	CA346066033	POMC	c.790A>G (p.Lys264Glu)
2	g.25161095T>G	CA346066035	POMC	c.790A>C (p.Lys264Gln)
2	g.25161096G>A	CA425352827	POMC	c.789C>T (p.Tyr263=)
2	g.25161096G>C	CA346066036	POMC	c.789C>G (p.Tyr263Ter)	gnomAD v4
2	g.25161096G>T	CA346066038	POMC	c.789C>A (p.Tyr263Ter)
2	g.25161097T>A	CA346066040	POMC	c.788A>T (p.Tyr263Phe)
2	g.25161097T>C	CA346066041	POMC	c.788A>G (p.Tyr263Cys)	gnomAD v4
2	g.25161097T>G	CA346066042	POMC	c.788A>C (p.Tyr263Ser)
2	g.25161098A=	CA1239226833	POMC	c.787T= (p.Tyr263=)
2	g.25161098A>C	CA346066047	POMC	c.787T>G (p.Tyr263Asp)
2	g.25161098A>G	CA346066043	POMC	c.787T>C (p.Tyr263His)
2	g.25161098A>T	CA346066045	POMC	c.787T>A (p.Tyr263Asn)
2	g.25161099G>A	CA425352832	POMC	c.786C>T (p.Ala262=)	dbSNP
2	g.25161099G>C	CA425352835	POMC	c.786C>G (p.Ala262=)
2	g.25161099G=	CA1239226837	POMC	c.786C= (p.Ala262=)
2	g.25161099G>T	CA425352834	POMC	c.786C>A (p.Ala262=)
2	g.25161099_25161111dup	CA916494168	POMC	c.774_786dup (p.Tyr263HisfsTer?)	dbSNP gnomAD v3 gnomAD v4
2	g.25161100G>A	CA346066049	POMC	c.785C>T (p.Ala262Val)
2	g.25161100G>C	CA346066051	POMC	c.785C>G (p.Ala262Gly)
2	g.25161100G>T	CA346066052	POMC	c.785C>A (p.Ala262Asp)
2	g.25161101C>A	CA346066053	POMC	c.784G>T (p.Ala262Ser)
2	g.25161101C=	CA1239226840	POMC	c.784G= (p.Ala262=)
2	g.25161101C>G	CA346066054	POMC	c.784G>C (p.Ala262Pro)
2	g.25161101C>T	CA1555214	POMC	c.784G>A (p.Ala262Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.25161102G>A	CA425352837	POMC	c.783C>T (p.Asn261=)	dbSNP
2	g.25161102G>C	CA346066055	POMC	c.783C>G (p.Asn261Lys)	gnomAD v4

Number of alleles fetched