Canonical Allele Identifier: CA2792344584

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964500_61964501insACA , CM000673.2:g.61964500_61964501insACA	GRCh38
NC_000011.9:g.61731972_61731973insACA , CM000673.1:g.61731972_61731973insACA	GRCh37
NC_000011.8:g.61488548_61488549insACA	NCBI36
NG_008346.1:g.8160_8161insTGT
NG_009033.1:g.19617_19618insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*226_*227insTGT (FTH1) MANE Select	ENSP00000273550.7:n.*226_*227insTGT
ENST00000273550.11:c.*226_*227insTGT (FTH1)	ENSP00000273550.7:n.*226_*227insTGT
ENST00000449131.6:c.*1351_*1352insACA (BEST1)	ENSP00000399709.2:n.*1351_*1352insACA
ENST00000529191.5:c.114+2811_114+2812insTGT (FTH1)	ENSP00000431659.1:n.114+2811_114+2812insTGT
ENST00000529631.5:c.114+2811_114+2812insTGT (FTH1)	ENSP00000431575.1:n.114+2811_114+2812insTGT
ENST00000530019.5:c.261+868_261+869insTGT (FTH1)	ENSP00000433470.1:n.261+868_261+869insTGT
NM_002032.2:c.*226_*227insTGT (FTH1)	NP_002023.2:n.*226_*227insTGT
NM_002032.3:c.*226_*227insTGT (FTH1) MANE Select	NP_002023.2:n.*226_*227insTGT
NM_001139443.2:c.*1351_*1352insACA (BEST1)	NP_001132915.1:n.*1351_*1352insACA
NM_001363591.2:c.*1351_*1352insACA (BEST1)	NP_001350520.1:n.*1351_*1352insACA
NM_001363593.2:c.*1351_*1352insACA (BEST1)	NP_001350522.1:n.*1351_*1352insACA