Canonical Allele Identifier: CA2697548601

Gene: FTH1 BEST1

Linked Data

• ClinVar Variation Id: 2685999
• ClinVar RCV Id: RCV003482891

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964767_61964768del , CM000673.2:g.61964767_61964768del	GRCh38
NC_000011.9:g.61732239_61732240del , CM000673.1:g.61732239_61732240del	GRCh37
NC_000011.8:g.61488815_61488816del	NCBI36
NG_008346.1:g.7894_7895del
NG_009033.1:g.19884_19885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.512_513del (FTH1)	ENSP00000484477.1:p.Phe171Ter
ENST00000273550.12:c.512_513del (FTH1) MANE Select	ENSP00000273550.7:p.Phe171Ter
ENST00000273550.11:c.512_513del (FTH1)	ENSP00000273550.7:p.Phe171Ter
ENST00000449131.6:c.*1618_*1619del (BEST1)	ENSP00000399709.2:n.*1618_*1619del
ENST00000526640.5:c.422_423del (FTH1)	ENSP00000433321.1:p.Phe141Ter
ENST00000529191.5:c.114+2545_114+2546del (FTH1)	ENSP00000431659.1:n.114+2545_114+2546del
ENST00000529631.5:c.114+2545_114+2546del (FTH1)	ENSP00000431575.1:n.114+2545_114+2546del
ENST00000530019.5:c.261+602_261+603del (FTH1)	ENSP00000433470.1:n.261+602_261+603del
ENST00000532601.1:c.302_303del (FTH1)	ENSP00000435111.1:p.Phe101Ter
ENST00000532829.5:c.*217_*218del (FTH1)	ENSP00000432223.1:n.*217_*218del
ENST00000534180.1:c.*421_*422del (FTH1)	ENSP00000434403.1:n.*421_*422del
ENST00000534719.1:n.768_769del (FTH1)
ENST00000620041.4:c.512_513del (FTH1)	ENSP00000484477.1:p.Phe171Ter
NM_002032.2:c.512_513del (FTH1)	NP_002023.2:p.Phe171Ter
NM_002032.3:c.512_513del (FTH1) MANE Select	NP_002023.2:p.Phe171Ter
NM_001139443.2:c.*1618_*1619del (BEST1)	NP_001132915.1:n.*1618_*1619del
NM_001363591.2:c.*1618_*1619del (BEST1)	NP_001350520.1:n.*1618_*1619del
NM_001363593.2:c.*1618_*1619del (BEST1)	NP_001350522.1:n.*1618_*1619del