Canonical Allele Identifier: CA1977539068

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964648_61964670delinsAAAGGAAACCCCAACATGCATGC , CM000673.2:g.61964648_61964670delinsAAAGGAAACCCCAACATGCATGC	GRCh38
NC_000011.9:g.61732120_61732142delinsAAAGGAAACCCCAACATGCATGC , CM000673.1:g.61732120_61732142delinsAAAGGAAACCCCAACATGCATGC	GRCh37
NC_000011.8:g.61488696_61488718delinsAAAGGAAACCCCAACATGCATGC	NCBI36
NG_008346.1:g.7991_8013delinsGCATGCATGTTGGGGTTTCCTTT
NG_009033.1:g.19765_19787delinsAAAGGAAACCCCAACATGCATGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000484477.1:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
ENST00000273550.12:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1) MANE Select	ENSP00000273550.7:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
ENST00000273550.11:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000273550.7:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
ENST00000449131.6:c.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC (BEST1)	ENSP00000399709.2:n.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC
ENST00000526640.5:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000433321.1:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
ENST00000529191.5:c.114+2642_114+2664delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000431659.1:n.114+2642_114+2664delinsGCATGCATGTTGGGGTTT...
ENST00000529631.5:c.114+2642_114+2664delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000431575.1:n.114+2642_114+2664delinsGCATGCATGTTGGGGTTT...
ENST00000530019.5:c.261+699_261+721delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000433470.1:n.261+699_261+721delinsGCATGCATGTTGGGGTTTCC...
ENST00000532601.1:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000435111.1:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
ENST00000532829.5:c.*314_*336delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000432223.1:n.*314_*336delinsGCATGCATGTTGGGGTTTCCTTT
ENST00000534180.1:c.*518_*540delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000434403.1:n.*518_*540delinsGCATGCATGTTGGGGTTTCCTTT
ENST00000620041.4:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	ENSP00000484477.1:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
NM_002032.2:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1)	NP_002023.2:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
NM_002032.3:c.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT (FTH1) MANE Select	NP_002023.2:n.*57_*79delinsGCATGCATGTTGGGGTTTCCTTT
NM_001139443.2:c.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC (BEST1)	NP_001132915.1:n.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC
NM_001363591.2:c.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC (BEST1)	NP_001350520.1:n.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC
NM_001363593.2:c.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC (BEST1)	NP_001350522.1:n.*1499_*1521delinsAAAGGAAACCCCAACATGCATGC