Canonical Allele Identifier: CA2792344621

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964572_61964574del , CM000673.2:g.61964572_61964574del	GRCh38
NC_000011.9:g.61732044_61732046del , CM000673.1:g.61732044_61732046del	GRCh37
NC_000011.8:g.61488620_61488622del	NCBI36
NG_008346.1:g.8087_8089del
NG_009033.1:g.19689_19691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*153_*155del (FTH1)	ENSP00000484477.1:n.*153_*155del
ENST00000273550.12:c.*153_*155del (FTH1) MANE Select	ENSP00000273550.7:n.*153_*155del
ENST00000273550.11:c.*153_*155del (FTH1)	ENSP00000273550.7:n.*153_*155del
ENST00000449131.6:c.*1423_*1425del (BEST1)	ENSP00000399709.2:n.*1423_*1425del
ENST00000529191.5:c.114+2738_114+2740del (FTH1)	ENSP00000431659.1:n.114+2738_114+2740del
ENST00000529631.5:c.114+2738_114+2740del (FTH1)	ENSP00000431575.1:n.114+2738_114+2740del
ENST00000530019.5:c.261+795_261+797del (FTH1)	ENSP00000433470.1:n.261+795_261+797del
ENST00000532829.5:c.*410_*412del (FTH1)	ENSP00000432223.1:n.*410_*412del
ENST00000534180.1:c.*614_*616del (FTH1)	ENSP00000434403.1:n.*614_*616del
ENST00000620041.4:c.*153_*155del (FTH1)	ENSP00000484477.1:n.*153_*155del
NM_002032.2:c.*153_*155del (FTH1)	NP_002023.2:n.*153_*155del
NM_002032.3:c.*153_*155del (FTH1) MANE Select	NP_002023.2:n.*153_*155del
NM_001139443.2:c.*1423_*1425del (BEST1)	NP_001132915.1:n.*1423_*1425del
NM_001363591.2:c.*1423_*1425del (BEST1)	NP_001350520.1:n.*1423_*1425del
NM_001363593.2:c.*1423_*1425del (BEST1)	NP_001350522.1:n.*1423_*1425del