Canonical Allele Identifier: CA2792344587

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964511_61964513del , CM000673.2:g.61964511_61964513del	GRCh38
NC_000011.9:g.61731983_61731985del , CM000673.1:g.61731983_61731985del	GRCh37
NC_000011.8:g.61488559_61488561del	NCBI36
NG_008346.1:g.8148_8150del
NG_009033.1:g.19628_19630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*214_*216del (FTH1) MANE Select	ENSP00000273550.7:n.*214_*216del
ENST00000273550.11:c.*214_*216del (FTH1)	ENSP00000273550.7:n.*214_*216del
ENST00000449131.6:c.*1362_*1364del (BEST1)	ENSP00000399709.2:n.*1362_*1364del
ENST00000529191.5:c.114+2799_114+2801del (FTH1)	ENSP00000431659.1:n.114+2799_114+2801del
ENST00000529631.5:c.114+2799_114+2801del (FTH1)	ENSP00000431575.1:n.114+2799_114+2801del
ENST00000530019.5:c.261+856_261+858del (FTH1)	ENSP00000433470.1:n.261+856_261+858del
NM_002032.2:c.*214_*216del (FTH1)	NP_002023.2:n.*214_*216del
NM_002032.3:c.*214_*216del (FTH1) MANE Select	NP_002023.2:n.*214_*216del
NM_001139443.2:c.*1362_*1364del (BEST1)	NP_001132915.1:n.*1362_*1364del
NM_001363591.2:c.*1362_*1364del (BEST1)	NP_001350520.1:n.*1362_*1364del
NM_001363593.2:c.*1362_*1364del (BEST1)	NP_001350522.1:n.*1362_*1364del