Canonical Allele Identifier: CA2613931331

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964735-C-CATT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964738_61964740dup , CM000673.2:g.61964738_61964740dup	GRCh38
NC_000011.9:g.61732210_61732212dup , CM000673.1:g.61732210_61732212dup	GRCh37
NC_000011.8:g.61488786_61488788dup	NCBI36
NG_008346.1:g.7923_7925dup
NG_009033.1:g.19855_19857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.541_543dup (FTH1)	ENSP00000484477.1:p.Asn181_Glu182insAsn
ENST00000273550.12:c.541_543dup (FTH1) MANE Select	ENSP00000273550.7:p.Asn181_Glu182insAsn
ENST00000273550.11:c.541_543dup (FTH1)	ENSP00000273550.7:p.Asn181_Glu182insAsn
ENST00000449131.6:c.*1589_*1591dup (BEST1)	ENSP00000399709.2:n.*1589_*1591dup
ENST00000526640.5:c.451_453dup (FTH1)	ENSP00000433321.1:p.Asn151_Glu152insAsn
ENST00000529191.5:c.114+2574_114+2576dup (FTH1)	ENSP00000431659.1:n.114+2574_114+2576dup
ENST00000529631.5:c.114+2574_114+2576dup (FTH1)	ENSP00000431575.1:n.114+2574_114+2576dup
ENST00000530019.5:c.261+631_261+633dup (FTH1)	ENSP00000433470.1:n.261+631_261+633dup
ENST00000532601.1:c.331_333dup (FTH1)	ENSP00000435111.1:p.Asn111_Glu112insAsn
ENST00000532829.5:c.*246_*248dup (FTH1)	ENSP00000432223.1:n.*246_*248dup
ENST00000534180.1:c.*450_*452dup (FTH1)	ENSP00000434403.1:n.*450_*452dup
ENST00000620041.4:c.541_543dup (FTH1)	ENSP00000484477.1:p.Asn181_Glu182insAsn
NM_002032.2:c.541_543dup (FTH1)	NP_002023.2:p.Asn181_Glu182insAsn
NM_002032.3:c.541_543dup (FTH1) MANE Select	NP_002023.2:p.Asn181_Glu182insAsn
NM_001139443.2:c.*1589_*1591dup (BEST1)	NP_001132915.1:n.*1589_*1591dup
NM_001363591.2:c.*1589_*1591dup (BEST1)	NP_001350520.1:n.*1589_*1591dup
NM_001363593.2:c.*1589_*1591dup (BEST1)	NP_001350522.1:n.*1589_*1591dup