Canonical Allele Identifier: CA2792344631

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964637_61964638insACT , CM000673.2:g.61964637_61964638insACT	GRCh38
NC_000011.9:g.61732109_61732110insACT , CM000673.1:g.61732109_61732110insACT	GRCh37
NC_000011.8:g.61488685_61488686insACT	NCBI36
NG_008346.1:g.8023_8024insAGT
NG_009033.1:g.19754_19755insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*89_*90insAGT (FTH1)	ENSP00000484477.1:n.*89_*90insAGT
ENST00000273550.12:c.*89_*90insAGT (FTH1) MANE Select	ENSP00000273550.7:n.*89_*90insAGT
ENST00000273550.11:c.*89_*90insAGT (FTH1)	ENSP00000273550.7:n.*89_*90insAGT
ENST00000449131.6:c.*1488_*1489insACT (BEST1)	ENSP00000399709.2:n.*1488_*1489insACT
ENST00000526640.5:c.*89_*90insAGT (FTH1)	ENSP00000433321.1:n.*89_*90insAGT
ENST00000529191.5:c.114+2674_114+2675insAGT (FTH1)	ENSP00000431659.1:n.114+2674_114+2675insAGT
ENST00000529631.5:c.114+2674_114+2675insAGT (FTH1)	ENSP00000431575.1:n.114+2674_114+2675insAGT
ENST00000530019.5:c.261+731_261+732insAGT (FTH1)	ENSP00000433470.1:n.261+731_261+732insAGT
ENST00000532601.1:c.*89_*90insAGT (FTH1)	ENSP00000435111.1:n.*89_*90insAGT
ENST00000532829.5:c.*346_*347insAGT (FTH1)	ENSP00000432223.1:n.*346_*347insAGT
ENST00000534180.1:c.*550_*551insAGT (FTH1)	ENSP00000434403.1:n.*550_*551insAGT
ENST00000620041.4:c.*89_*90insAGT (FTH1)	ENSP00000484477.1:n.*89_*90insAGT
NM_002032.2:c.*89_*90insAGT (FTH1)	NP_002023.2:n.*89_*90insAGT
NM_002032.3:c.*89_*90insAGT (FTH1) MANE Select	NP_002023.2:n.*89_*90insAGT
NM_001139443.2:c.*1488_*1489insACT (BEST1)	NP_001132915.1:n.*1488_*1489insACT
NM_001363591.2:c.*1488_*1489insACT (BEST1)	NP_001350520.1:n.*1488_*1489insACT
NM_001363593.2:c.*1488_*1489insACT (BEST1)	NP_001350522.1:n.*1488_*1489insACT