Canonical Allele Identifier: CA2792344598

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964530_61964531insA , CM000673.2:g.61964530_61964531insA	GRCh38
NC_000011.9:g.61732002_61732003insA , CM000673.1:g.61732002_61732003insA	GRCh37
NC_000011.8:g.61488578_61488579insA	NCBI36
NG_008346.1:g.8130_8131insT
NG_009033.1:g.19647_19648insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*196_*197insT (FTH1) MANE Select	ENSP00000273550.7:n.*196_*197insT
ENST00000273550.11:c.*196_*197insT (FTH1)	ENSP00000273550.7:n.*196_*197insT
ENST00000449131.6:c.*1381_*1382insA (BEST1)	ENSP00000399709.2:n.*1381_*1382insA
ENST00000529191.5:c.114+2781_114+2782insT (FTH1)	ENSP00000431659.1:n.114+2781_114+2782insT
ENST00000529631.5:c.114+2781_114+2782insT (FTH1)	ENSP00000431575.1:n.114+2781_114+2782insT
ENST00000530019.5:c.261+838_261+839insT (FTH1)	ENSP00000433470.1:n.261+838_261+839insT
NM_002032.2:c.*196_*197insT (FTH1)	NP_002023.2:n.*196_*197insT
NM_002032.3:c.*196_*197insT (FTH1) MANE Select	NP_002023.2:n.*196_*197insT
NM_001139443.2:c.*1381_*1382insA (BEST1)	NP_001132915.1:n.*1381_*1382insA
NM_001363591.2:c.*1381_*1382insA (BEST1)	NP_001350520.1:n.*1381_*1382insA
NM_001363593.2:c.*1381_*1382insA (BEST1)	NP_001350522.1:n.*1381_*1382insA