Canonical Allele Identifier: CA1977539053

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964617_61964618delinsTG , CM000673.2:g.61964617_61964618delinsTG	GRCh38
NC_000011.9:g.61732089_61732090delinsTG , CM000673.1:g.61732089_61732090delinsTG	GRCh37
NC_000011.8:g.61488665_61488666delinsTG	NCBI36
NG_008346.1:g.8043_8044delinsCA
NG_009033.1:g.19734_19735delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*109_*110delinsCA (FTH1)	ENSP00000484477.1:n.*109_*110delinsCA
ENST00000273550.12:c.*109_*110delinsCA (FTH1) MANE Select	ENSP00000273550.7:n.*109_*110delinsCA
ENST00000273550.11:c.*109_*110delinsCA (FTH1)	ENSP00000273550.7:n.*109_*110delinsCA
ENST00000449131.6:c.*1468_*1469delinsTG (BEST1)	ENSP00000399709.2:n.*1468_*1469delinsTG
ENST00000526640.5:c.*109_*110delinsCA (FTH1)	ENSP00000433321.1:n.*109_*110delinsCA
ENST00000529191.5:c.114+2694_114+2695delinsCA (FTH1)	ENSP00000431659.1:n.114+2694_114+2695delinsCA
ENST00000529631.5:c.114+2694_114+2695delinsCA (FTH1)	ENSP00000431575.1:n.114+2694_114+2695delinsCA
ENST00000530019.5:c.261+751_261+752delinsCA (FTH1)	ENSP00000433470.1:n.261+751_261+752delinsCA
ENST00000532601.1:c.*109_*110delinsCA (FTH1)	ENSP00000435111.1:n.*109_*110delinsCA
ENST00000532829.5:c.*366_*367delinsCA (FTH1)	ENSP00000432223.1:n.*366_*367delinsCA
ENST00000534180.1:c.*570_*571delinsCA (FTH1)	ENSP00000434403.1:n.*570_*571delinsCA
ENST00000620041.4:c.*109_*110delinsCA (FTH1)	ENSP00000484477.1:n.*109_*110delinsCA
NM_002032.2:c.*109_*110delinsCA (FTH1)	NP_002023.2:n.*109_*110delinsCA
NM_002032.3:c.*109_*110delinsCA (FTH1) MANE Select	NP_002023.2:n.*109_*110delinsCA
NM_001139443.2:c.*1468_*1469delinsTG (BEST1)	NP_001132915.1:n.*1468_*1469delinsTG
NM_001363591.2:c.*1468_*1469delinsTG (BEST1)	NP_001350520.1:n.*1468_*1469delinsTG
NM_001363593.2:c.*1468_*1469delinsTG (BEST1)	NP_001350522.1:n.*1468_*1469delinsTG