Canonical Allele Identifier: CA2792344618

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964568_61964569del , CM000673.2:g.61964568_61964569del	GRCh38
NC_000011.9:g.61732040_61732041del , CM000673.1:g.61732040_61732041del	GRCh37
NC_000011.8:g.61488616_61488617del	NCBI36
NG_008346.1:g.8092_8093del
NG_009033.1:g.19685_19686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*158_*159del (FTH1)	ENSP00000484477.1:n.*158_*159del
ENST00000273550.12:c.*158_*159del (FTH1) MANE Select	ENSP00000273550.7:n.*158_*159del
ENST00000273550.11:c.*158_*159del (FTH1)	ENSP00000273550.7:n.*158_*159del
ENST00000449131.6:c.*1419_*1420del (BEST1)	ENSP00000399709.2:n.*1419_*1420del
ENST00000529191.5:c.114+2743_114+2744del (FTH1)	ENSP00000431659.1:n.114+2743_114+2744del
ENST00000529631.5:c.114+2743_114+2744del (FTH1)	ENSP00000431575.1:n.114+2743_114+2744del
ENST00000530019.5:c.261+800_261+801del (FTH1)	ENSP00000433470.1:n.261+800_261+801del
ENST00000532829.5:c.*415_*416del (FTH1)	ENSP00000432223.1:n.*415_*416del
ENST00000534180.1:c.*619_*620del (FTH1)	ENSP00000434403.1:n.*619_*620del
ENST00000620041.4:c.*158_*159del (FTH1)	ENSP00000484477.1:n.*158_*159del
NM_002032.2:c.*158_*159del (FTH1)	NP_002023.2:n.*158_*159del
NM_002032.3:c.*158_*159del (FTH1) MANE Select	NP_002023.2:n.*158_*159del
NM_001139443.2:c.*1419_*1420del (BEST1)	NP_001132915.1:n.*1419_*1420del
NM_001363591.2:c.*1419_*1420del (BEST1)	NP_001350520.1:n.*1419_*1420del
NM_001363593.2:c.*1419_*1420del (BEST1)	NP_001350522.1:n.*1419_*1420del