Canonical Allele Identifier: CA1977538980

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964529_61964530delinsAT , CM000673.2:g.61964529_61964530delinsAT	GRCh38
NC_000011.9:g.61732001_61732002delinsAT , CM000673.1:g.61732001_61732002delinsAT	GRCh37
NC_000011.8:g.61488577_61488578delinsAT	NCBI36
NG_008346.1:g.8131_8132delinsAT
NG_009033.1:g.19646_19647delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*197_*198delinsAT (FTH1) MANE Select	ENSP00000273550.7:n.*197_*198delinsAT
ENST00000273550.11:c.*197_*198delinsAT (FTH1)	ENSP00000273550.7:n.*197_*198delinsAT
ENST00000449131.6:c.*1380_*1381delinsAT (BEST1)	ENSP00000399709.2:n.*1380_*1381delinsAT
ENST00000529191.5:c.114+2782_114+2783delinsAT (FTH1)	ENSP00000431659.1:n.114+2782_114+2783delinsAT
ENST00000529631.5:c.114+2782_114+2783delinsAT (FTH1)	ENSP00000431575.1:n.114+2782_114+2783delinsAT
ENST00000530019.5:c.261+839_261+840delinsAT (FTH1)	ENSP00000433470.1:n.261+839_261+840delinsAT
NM_002032.2:c.*197_*198delinsAT (FTH1)	NP_002023.2:n.*197_*198delinsAT
NM_002032.3:c.*197_*198delinsAT (FTH1) MANE Select	NP_002023.2:n.*197_*198delinsAT
NM_001139443.2:c.*1380_*1381delinsAT (BEST1)	NP_001132915.1:n.*1380_*1381delinsAT
NM_001363591.2:c.*1380_*1381delinsAT (BEST1)	NP_001350520.1:n.*1380_*1381delinsAT
NM_001363593.2:c.*1380_*1381delinsAT (BEST1)	NP_001350522.1:n.*1380_*1381delinsAT