Canonical Allele Identifier: CA2838322984

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61965001dup , CM000673.2:g.61965001dup	GRCh38
NC_000011.9:g.61732473dup , CM000673.1:g.61732473dup	GRCh37
NC_000011.8:g.61489049dup	NCBI36
NG_008346.1:g.7664dup
NG_009033.1:g.20118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.377dup (FTH1)	ENSP00000484477.1:p.Asn126LysfsTer2
ENST00000273550.12:c.377dup (FTH1) MANE Select	ENSP00000273550.7:p.Asn126LysfsTer2
ENST00000273550.11:c.377dup (FTH1)	ENSP00000273550.7:p.Asn126LysfsTer2
ENST00000449131.6:c.*1852dup (BEST1)	ENSP00000399709.2:n.*1852dup
ENST00000526640.5:c.287dup (FTH1)	ENSP00000433321.1:p.Asn96LysfsTer2
ENST00000529191.5:c.114+2315dup (FTH1)	ENSP00000431659.1:n.114+2315dup
ENST00000529548.1:c.167dup (FTH1)	ENSP00000436947.1:p.Asn56LysfsTer2
ENST00000529631.5:c.114+2315dup (FTH1)	ENSP00000431575.1:n.114+2315dup
ENST00000530019.5:c.261+372dup (FTH1)	ENSP00000433470.1:n.261+372dup
ENST00000532601.1:c.167dup (FTH1)	ENSP00000435111.1:p.Asn56LysfsTer2
ENST00000532829.5:c.*82dup (FTH1)	ENSP00000432223.1:n.*82dup
ENST00000533138.1:n.821dup (FTH1)
ENST00000534180.1:c.*286dup (FTH1)	ENSP00000434403.1:n.*286dup
ENST00000534719.1:n.538dup (FTH1)
ENST00000620041.4:c.377dup (FTH1)	ENSP00000484477.1:p.Asn126LysfsTer2
NM_002032.2:c.377dup (FTH1)	NP_002023.2:p.Asn126LysfsTer2
NM_002032.3:c.377dup (FTH1) MANE Select	NP_002023.2:p.Asn126LysfsTer2
NM_001139443.2:c.*1852dup (BEST1)	NP_001132915.1:n.*1852dup
NM_001363591.2:c.*1852dup (BEST1)	NP_001350520.1:n.*1852dup
NM_001363593.2:c.*1852dup (BEST1)	NP_001350522.1:n.*1852dup