Canonical Allele Identifier: CA2580084374

Gene: FTH1 BEST1

Linked Data

• ClinVar Variation Id: 2050429
• ClinVar RCV Id: RCV002914511

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61965075_61965076delinsTT , CM000673.2:g.61965075_61965076delinsTT	GRCh38
NC_000011.9:g.61732547_61732548delinsTT , CM000673.1:g.61732547_61732548delinsTT	GRCh37
NC_000011.8:g.61489123_61489124delinsTT	NCBI36
NG_008346.1:g.7585_7586delinsAA
NG_009033.1:g.20192_20193delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.298_299delinsAA (FTH1)	ENSP00000484477.1:p.Ala100Lys
ENST00000273550.12:c.298_299delinsAA (FTH1) MANE Select	ENSP00000273550.7:p.Ala100Lys
ENST00000273550.11:c.298_299delinsAA (FTH1)	ENSP00000273550.7:p.Ala100Lys
ENST00000449131.6:c.*1926_*1927delinsTT (BEST1)	ENSP00000399709.2:n.*1926_*1927delinsTT
ENST00000526640.5:c.208_209delinsAA (FTH1)	ENSP00000433321.1:p.Ala70Lys
ENST00000529191.5:c.114+2236_114+2237delinsAA (FTH1)	ENSP00000431659.1:n.114+2236_114+2237delinsAA
ENST00000529548.1:c.88_89delinsAA (FTH1)	ENSP00000436947.1:p.Ala30Lys
ENST00000529631.5:c.114+2236_114+2237delinsAA (FTH1)	ENSP00000431575.1:n.114+2236_114+2237delinsAA
ENST00000530019.5:c.261+293_261+294delinsAA (FTH1)	ENSP00000433470.1:n.261+293_261+294delinsAA
ENST00000532601.1:c.88_89delinsAA (FTH1)	ENSP00000435111.1:p.Ala30Lys
ENST00000532829.5:c.*3_*4delinsAA (FTH1)	ENSP00000432223.1:n.*3_*4delinsAA
ENST00000533138.1:n.742_743delinsAA (FTH1)
ENST00000534180.1:c.*207_*208delinsAA (FTH1)	ENSP00000434403.1:n.*207_*208delinsAA
ENST00000534719.1:n.459_460delinsAA (FTH1)
ENST00000620041.4:c.298_299delinsAA (FTH1)	ENSP00000484477.1:p.Ala100Lys
NM_002032.2:c.298_299delinsAA (FTH1)	NP_002023.2:p.Ala100Lys
NM_002032.3:c.298_299delinsAA (FTH1) MANE Select	NP_002023.2:p.Ala100Lys
NM_001139443.2:c.*1926_*1927delinsTT (BEST1)	NP_001132915.1:n.*1926_*1927delinsTT
NM_001363591.2:c.*1926_*1927delinsTT (BEST1)	NP_001350520.1:n.*1926_*1927delinsTT
NM_001363593.2:c.*1926_*1927delinsTT (BEST1)	NP_001350522.1:n.*1926_*1927delinsTT