Canonical Allele Identifier: CA2792344620

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964571_61964573del , CM000673.2:g.61964571_61964573del	GRCh38
NC_000011.9:g.61732043_61732045del , CM000673.1:g.61732043_61732045del	GRCh37
NC_000011.8:g.61488619_61488621del	NCBI36
NG_008346.1:g.8089_8091del
NG_009033.1:g.19688_19690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*155_*157del (FTH1)	ENSP00000484477.1:n.*155_*157del
ENST00000273550.12:c.*155_*157del (FTH1) MANE Select	ENSP00000273550.7:n.*155_*157del
ENST00000273550.11:c.*155_*157del (FTH1)	ENSP00000273550.7:n.*155_*157del
ENST00000449131.6:c.*1422_*1424del (BEST1)	ENSP00000399709.2:n.*1422_*1424del
ENST00000529191.5:c.114+2740_114+2742del (FTH1)	ENSP00000431659.1:n.114+2740_114+2742del
ENST00000529631.5:c.114+2740_114+2742del (FTH1)	ENSP00000431575.1:n.114+2740_114+2742del
ENST00000530019.5:c.261+797_261+799del (FTH1)	ENSP00000433470.1:n.261+797_261+799del
ENST00000532829.5:c.*412_*414del (FTH1)	ENSP00000432223.1:n.*412_*414del
ENST00000534180.1:c.*616_*618del (FTH1)	ENSP00000434403.1:n.*616_*618del
ENST00000620041.4:c.*155_*157del (FTH1)	ENSP00000484477.1:n.*155_*157del
NM_002032.2:c.*155_*157del (FTH1)	NP_002023.2:n.*155_*157del
NM_002032.3:c.*155_*157del (FTH1) MANE Select	NP_002023.2:n.*155_*157del
NM_001139443.2:c.*1422_*1424del (BEST1)	NP_001132915.1:n.*1422_*1424del
NM_001363591.2:c.*1422_*1424del (BEST1)	NP_001350520.1:n.*1422_*1424del
NM_001363593.2:c.*1422_*1424del (BEST1)	NP_001350522.1:n.*1422_*1424del