Canonical Allele Identifier: CA1977538987

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964531_61964533delinsTTC , CM000673.2:g.61964531_61964533delinsTTC	GRCh38
NC_000011.9:g.61732003_61732005delinsTTC , CM000673.1:g.61732003_61732005delinsTTC	GRCh37
NC_000011.8:g.61488579_61488581delinsTTC	NCBI36
NG_008346.1:g.8128_8130delinsGAA
NG_009033.1:g.19648_19650delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*194_*196delinsGAA (FTH1) MANE Select	ENSP00000273550.7:n.*194_*196delinsGAA
ENST00000273550.11:c.*194_*196delinsGAA (FTH1)	ENSP00000273550.7:n.*194_*196delinsGAA
ENST00000449131.6:c.*1382_*1384delinsTTC (BEST1)	ENSP00000399709.2:n.*1382_*1384delinsTTC
ENST00000529191.5:c.114+2779_114+2781delinsGAA (FTH1)	ENSP00000431659.1:n.114+2779_114+2781delinsGAA
ENST00000529631.5:c.114+2779_114+2781delinsGAA (FTH1)	ENSP00000431575.1:n.114+2779_114+2781delinsGAA
ENST00000530019.5:c.261+836_261+838delinsGAA (FTH1)	ENSP00000433470.1:n.261+836_261+838delinsGAA
NM_002032.2:c.*194_*196delinsGAA (FTH1)	NP_002023.2:n.*194_*196delinsGAA
NM_002032.3:c.*194_*196delinsGAA (FTH1) MANE Select	NP_002023.2:n.*194_*196delinsGAA
NM_001139443.2:c.*1382_*1384delinsTTC (BEST1)	NP_001132915.1:n.*1382_*1384delinsTTC
NM_001363591.2:c.*1382_*1384delinsTTC (BEST1)	NP_001350520.1:n.*1382_*1384delinsTTC
NM_001363593.2:c.*1382_*1384delinsTTC (BEST1)	NP_001350522.1:n.*1382_*1384delinsTTC