Canonical Allele Identifier: CA2792344624

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964581_61964582insAC , CM000673.2:g.61964581_61964582insAC	GRCh38
NC_000011.9:g.61732053_61732054insAC , CM000673.1:g.61732053_61732054insAC	GRCh37
NC_000011.8:g.61488629_61488630insAC	NCBI36
NG_008346.1:g.8079_8080insGT
NG_009033.1:g.19698_19699insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*145_*146insGT (FTH1)	ENSP00000484477.1:n.*145_*146insGT
ENST00000273550.12:c.*145_*146insGT (FTH1) MANE Select	ENSP00000273550.7:n.*145_*146insGT
ENST00000273550.11:c.*145_*146insGT (FTH1)	ENSP00000273550.7:n.*145_*146insGT
ENST00000449131.6:c.*1432_*1433insAC (BEST1)	ENSP00000399709.2:n.*1432_*1433insAC
ENST00000529191.5:c.114+2730_114+2731insGT (FTH1)	ENSP00000431659.1:n.114+2730_114+2731insGT
ENST00000529631.5:c.114+2730_114+2731insGT (FTH1)	ENSP00000431575.1:n.114+2730_114+2731insGT
ENST00000530019.5:c.261+787_261+788insGT (FTH1)	ENSP00000433470.1:n.261+787_261+788insGT
ENST00000532829.5:c.*402_*403insGT (FTH1)	ENSP00000432223.1:n.*402_*403insGT
ENST00000534180.1:c.*606_*607insGT (FTH1)	ENSP00000434403.1:n.*606_*607insGT
ENST00000620041.4:c.*145_*146insGT (FTH1)	ENSP00000484477.1:n.*145_*146insGT
NM_002032.2:c.*145_*146insGT (FTH1)	NP_002023.2:n.*145_*146insGT
NM_002032.3:c.*145_*146insGT (FTH1) MANE Select	NP_002023.2:n.*145_*146insGT
NM_001139443.2:c.*1432_*1433insAC (BEST1)	NP_001132915.1:n.*1432_*1433insAC
NM_001363591.2:c.*1432_*1433insAC (BEST1)	NP_001350520.1:n.*1432_*1433insAC
NM_001363593.2:c.*1432_*1433insAC (BEST1)	NP_001350522.1:n.*1432_*1433insAC