Canonical Allele Identifier: CA1977539039

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964604_61964606delinsCAA , CM000673.2:g.61964604_61964606delinsCAA	GRCh38
NC_000011.9:g.61732076_61732078delinsCAA , CM000673.1:g.61732076_61732078delinsCAA	GRCh37
NC_000011.8:g.61488652_61488654delinsCAA	NCBI36
NG_008346.1:g.8055_8057delinsTTG
NG_009033.1:g.19721_19723delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*121_*123delinsTTG (FTH1)	ENSP00000484477.1:n.*121_*123delinsTTG
ENST00000273550.12:c.*121_*123delinsTTG (FTH1) MANE Select	ENSP00000273550.7:n.*121_*123delinsTTG
ENST00000273550.11:c.*121_*123delinsTTG (FTH1)	ENSP00000273550.7:n.*121_*123delinsTTG
ENST00000449131.6:c.*1455_*1457delinsCAA (BEST1)	ENSP00000399709.2:n.*1455_*1457delinsCAA
ENST00000526640.5:c.*121_*123delinsTTG (FTH1)	ENSP00000433321.1:n.*121_*123delinsTTG
ENST00000529191.5:c.114+2706_114+2708delinsTTG (FTH1)	ENSP00000431659.1:n.114+2706_114+2708delinsTTG
ENST00000529631.5:c.114+2706_114+2708delinsTTG (FTH1)	ENSP00000431575.1:n.114+2706_114+2708delinsTTG
ENST00000530019.5:c.261+763_261+765delinsTTG (FTH1)	ENSP00000433470.1:n.261+763_261+765delinsTTG
ENST00000532601.1:c.*121_*123delinsTTG (FTH1)	ENSP00000435111.1:n.*121_*123delinsTTG
ENST00000532829.5:c.*378_*380delinsTTG (FTH1)	ENSP00000432223.1:n.*378_*380delinsTTG
ENST00000534180.1:c.*582_*584delinsTTG (FTH1)	ENSP00000434403.1:n.*582_*584delinsTTG
ENST00000620041.4:c.*121_*123delinsTTG (FTH1)	ENSP00000484477.1:n.*121_*123delinsTTG
NM_002032.2:c.*121_*123delinsTTG (FTH1)	NP_002023.2:n.*121_*123delinsTTG
NM_002032.3:c.*121_*123delinsTTG (FTH1) MANE Select	NP_002023.2:n.*121_*123delinsTTG
NM_001139443.2:c.*1455_*1457delinsCAA (BEST1)	NP_001132915.1:n.*1455_*1457delinsCAA
NM_001363591.2:c.*1455_*1457delinsCAA (BEST1)	NP_001350520.1:n.*1455_*1457delinsCAA
NM_001363593.2:c.*1455_*1457delinsCAA (BEST1)	NP_001350522.1:n.*1455_*1457delinsCAA