Canonical Allele Identifier: CA2792344595

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964522_61964526del , CM000673.2:g.61964522_61964526del	GRCh38
NC_000011.9:g.61731994_61731998del , CM000673.1:g.61731994_61731998del	GRCh37
NC_000011.8:g.61488570_61488574del	NCBI36
NG_008346.1:g.8135_8139del
NG_009033.1:g.19639_19643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*201_*205del (FTH1) MANE Select	ENSP00000273550.7:n.*201_*205del
ENST00000273550.11:c.*201_*205del (FTH1)	ENSP00000273550.7:n.*201_*205del
ENST00000449131.6:c.*1373_*1377del (BEST1)	ENSP00000399709.2:n.*1373_*1377del
ENST00000529191.5:c.114+2786_114+2790del (FTH1)	ENSP00000431659.1:n.114+2786_114+2790del
ENST00000529631.5:c.114+2786_114+2790del (FTH1)	ENSP00000431575.1:n.114+2786_114+2790del
ENST00000530019.5:c.261+843_261+847del (FTH1)	ENSP00000433470.1:n.261+843_261+847del
NM_002032.2:c.*201_*205del (FTH1)	NP_002023.2:n.*201_*205del
NM_002032.3:c.*201_*205del (FTH1) MANE Select	NP_002023.2:n.*201_*205del
NM_001139443.2:c.*1373_*1377del (BEST1)	NP_001132915.1:n.*1373_*1377del
NM_001363591.2:c.*1373_*1377del (BEST1)	NP_001350520.1:n.*1373_*1377del
NM_001363593.2:c.*1373_*1377del (BEST1)	NP_001350522.1:n.*1373_*1377del