Canonical Allele Identifier: CA1977539008

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964558_61964559delinsCA , CM000673.2:g.61964558_61964559delinsCA	GRCh38
NC_000011.9:g.61732030_61732031delinsCA , CM000673.1:g.61732030_61732031delinsCA	GRCh37
NC_000011.8:g.61488606_61488607delinsCA	NCBI36
NG_008346.1:g.8102_8103delinsTG
NG_009033.1:g.19675_19676delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*168_*169delinsTG (FTH1) MANE Select	ENSP00000273550.7:n.*168_*169delinsTG
ENST00000273550.11:c.*168_*169delinsTG (FTH1)	ENSP00000273550.7:n.*168_*169delinsTG
ENST00000449131.6:c.*1409_*1410delinsCA (BEST1)	ENSP00000399709.2:n.*1409_*1410delinsCA
ENST00000529191.5:c.114+2753_114+2754delinsTG (FTH1)	ENSP00000431659.1:n.114+2753_114+2754delinsTG
ENST00000529631.5:c.114+2753_114+2754delinsTG (FTH1)	ENSP00000431575.1:n.114+2753_114+2754delinsTG
ENST00000530019.5:c.261+810_261+811delinsTG (FTH1)	ENSP00000433470.1:n.261+810_261+811delinsTG
NM_002032.2:c.*168_*169delinsTG (FTH1)	NP_002023.2:n.*168_*169delinsTG
NM_002032.3:c.*168_*169delinsTG (FTH1) MANE Select	NP_002023.2:n.*168_*169delinsTG
NM_001139443.2:c.*1409_*1410delinsCA (BEST1)	NP_001132915.1:n.*1409_*1410delinsCA
NM_001363591.2:c.*1409_*1410delinsCA (BEST1)	NP_001350520.1:n.*1409_*1410delinsCA
NM_001363593.2:c.*1409_*1410delinsCA (BEST1)	NP_001350522.1:n.*1409_*1410delinsCA