Canonical Allele Identifier: CA2574846250

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964701_61964702del , CM000673.2:g.61964701_61964702del	GRCh38
NC_000011.9:g.61732173_61732174del , CM000673.1:g.61732173_61732174del	GRCh37
NC_000011.8:g.61488749_61488750del	NCBI36
NG_008346.1:g.7959_7960del
NG_009033.1:g.19818_19819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*25_*26del (FTH1)	ENSP00000484477.1:n.*25_*26del
ENST00000273550.12:c.*25_*26del (FTH1) MANE Select	ENSP00000273550.7:n.*25_*26del
ENST00000273550.11:c.*25_*26del (FTH1)	ENSP00000273550.7:n.*25_*26del
ENST00000449131.6:c.*1552_*1553del (BEST1)	ENSP00000399709.2:n.*1552_*1553del
ENST00000526640.5:c.*25_*26del (FTH1)	ENSP00000433321.1:n.*25_*26del
ENST00000529191.5:c.114+2610_114+2611del (FTH1)	ENSP00000431659.1:n.114+2610_114+2611del
ENST00000529631.5:c.114+2610_114+2611del (FTH1)	ENSP00000431575.1:n.114+2610_114+2611del
ENST00000530019.5:c.261+667_261+668del (FTH1)	ENSP00000433470.1:n.261+667_261+668del
ENST00000532601.1:c.*25_*26del (FTH1)	ENSP00000435111.1:n.*25_*26del
ENST00000532829.5:c.*282_*283del (FTH1)	ENSP00000432223.1:n.*282_*283del
ENST00000534180.1:c.*486_*487del (FTH1)	ENSP00000434403.1:n.*486_*487del
ENST00000620041.4:c.*25_*26del (FTH1)	ENSP00000484477.1:n.*25_*26del
NM_002032.2:c.*25_*26del (FTH1)	NP_002023.2:n.*25_*26del
NM_002032.3:c.*25_*26del (FTH1) MANE Select	NP_002023.2:n.*25_*26del
NM_001139443.2:c.*1552_*1553del (BEST1)	NP_001132915.1:n.*1552_*1553del
NM_001363591.2:c.*1552_*1553del (BEST1)	NP_001350520.1:n.*1552_*1553del
NM_001363593.2:c.*1552_*1553del (BEST1)	NP_001350522.1:n.*1552_*1553del