Canonical Allele Identifier: CA2792344633

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964653_61964658del , CM000673.2:g.61964653_61964658del	GRCh38
NC_000011.9:g.61732125_61732130del , CM000673.1:g.61732125_61732130del	GRCh37
NC_000011.8:g.61488701_61488706del	NCBI36
NG_008346.1:g.8003_8008del
NG_009033.1:g.19770_19775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*69_*74del (FTH1)	ENSP00000484477.1:n.*69_*74del
ENST00000273550.12:c.*69_*74del (FTH1) MANE Select	ENSP00000273550.7:n.*69_*74del
ENST00000273550.11:c.*69_*74del (FTH1)	ENSP00000273550.7:n.*69_*74del
ENST00000449131.6:c.*1504_*1509del (BEST1)	ENSP00000399709.2:n.*1504_*1509del
ENST00000526640.5:c.*69_*74del (FTH1)	ENSP00000433321.1:n.*69_*74del
ENST00000529191.5:c.114+2654_114+2659del (FTH1)	ENSP00000431659.1:n.114+2654_114+2659del
ENST00000529631.5:c.114+2654_114+2659del (FTH1)	ENSP00000431575.1:n.114+2654_114+2659del
ENST00000530019.5:c.261+711_261+716del (FTH1)	ENSP00000433470.1:n.261+711_261+716del
ENST00000532601.1:c.*69_*74del (FTH1)	ENSP00000435111.1:n.*69_*74del
ENST00000532829.5:c.*326_*331del (FTH1)	ENSP00000432223.1:n.*326_*331del
ENST00000534180.1:c.*530_*535del (FTH1)	ENSP00000434403.1:n.*530_*535del
ENST00000620041.4:c.*69_*74del (FTH1)	ENSP00000484477.1:n.*69_*74del
NM_002032.2:c.*69_*74del (FTH1)	NP_002023.2:n.*69_*74del
NM_002032.3:c.*69_*74del (FTH1) MANE Select	NP_002023.2:n.*69_*74del
NM_001139443.2:c.*1504_*1509del (BEST1)	NP_001132915.1:n.*1504_*1509del
NM_001363591.2:c.*1504_*1509del (BEST1)	NP_001350520.1:n.*1504_*1509del
NM_001363593.2:c.*1504_*1509del (BEST1)	NP_001350522.1:n.*1504_*1509del