Canonical Allele Identifier: CA2792344610

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964550_61964552del , CM000673.2:g.61964550_61964552del	GRCh38
NC_000011.9:g.61732022_61732024del , CM000673.1:g.61732022_61732024del	GRCh37
NC_000011.8:g.61488598_61488600del	NCBI36
NG_008346.1:g.8110_8112del
NG_009033.1:g.19667_19669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*176_*178del (FTH1) MANE Select	ENSP00000273550.7:n.*176_*178del
ENST00000273550.11:c.*176_*178del (FTH1)	ENSP00000273550.7:n.*176_*178del
ENST00000449131.6:c.*1401_*1403del (BEST1)	ENSP00000399709.2:n.*1401_*1403del
ENST00000529191.5:c.114+2761_114+2763del (FTH1)	ENSP00000431659.1:n.114+2761_114+2763del
ENST00000529631.5:c.114+2761_114+2763del (FTH1)	ENSP00000431575.1:n.114+2761_114+2763del
ENST00000530019.5:c.261+818_261+820del (FTH1)	ENSP00000433470.1:n.261+818_261+820del
NM_002032.2:c.*176_*178del (FTH1)	NP_002023.2:n.*176_*178del
NM_002032.3:c.*176_*178del (FTH1) MANE Select	NP_002023.2:n.*176_*178del
NM_001139443.2:c.*1401_*1403del (BEST1)	NP_001132915.1:n.*1401_*1403del
NM_001363591.2:c.*1401_*1403del (BEST1)	NP_001350520.1:n.*1401_*1403del
NM_001363593.2:c.*1401_*1403del (BEST1)	NP_001350522.1:n.*1401_*1403del