Canonical Allele Identifier: CA654314693

Gene: FTH1 BEST1

Linked Data

• COSMIC: COSN22508352

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964579_61964580insG , CM000673.2:g.61964579_61964580insG	GRCh38
NC_000011.9:g.61732051_61732052insG , CM000673.1:g.61732051_61732052insG	GRCh37
NC_000011.8:g.61488627_61488628insG	NCBI36
NG_008346.1:g.8081_8082insC
NG_009033.1:g.19696_19697insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*147_*148insC (FTH1)	ENSP00000484477.1:n.*147_*148insC
ENST00000273550.12:c.*147_*148insC (FTH1) MANE Select	ENSP00000273550.7:n.*147_*148insC
ENST00000273550.11:c.*147_*148insC (FTH1)	ENSP00000273550.7:n.*147_*148insC
ENST00000449131.6:c.*1430_*1431insG (BEST1)	ENSP00000399709.2:n.*1430_*1431insG
ENST00000529191.5:c.114+2732_114+2733insC (FTH1)	ENSP00000431659.1:n.114+2732_114+2733insC
ENST00000529631.5:c.114+2732_114+2733insC (FTH1)	ENSP00000431575.1:n.114+2732_114+2733insC
ENST00000530019.5:c.261+789_261+790insC (FTH1)	ENSP00000433470.1:n.261+789_261+790insC
ENST00000532829.5:c.*404_*405insC (FTH1)	ENSP00000432223.1:n.*404_*405insC
ENST00000534180.1:c.*608_*609insC (FTH1)	ENSP00000434403.1:n.*608_*609insC
ENST00000620041.4:c.*147_*148insC (FTH1)	ENSP00000484477.1:n.*147_*148insC
NM_002032.2:c.*147_*148insC (FTH1)	NP_002023.2:n.*147_*148insC
NM_002032.3:c.*147_*148insC (FTH1) MANE Select	NP_002023.2:n.*147_*148insC
NM_001139443.2:c.*1430_*1431insG (BEST1)	NP_001132915.1:n.*1430_*1431insG
NM_001363591.2:c.*1430_*1431insG (BEST1)	NP_001350520.1:n.*1430_*1431insG
NM_001363593.2:c.*1430_*1431insG (BEST1)	NP_001350522.1:n.*1430_*1431insG