Canonical Allele Identifier: CA938623737

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1942391378
• gnomAD v3: 11-61964531-TTC-T
• gnomAD v4: 11-61964531-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964533_61964534del , CM000673.2:g.61964533_61964534del	GRCh38
NC_000011.9:g.61732005_61732006del , CM000673.1:g.61732005_61732006del	GRCh37
NC_000011.8:g.61488581_61488582del	NCBI36
NG_008346.1:g.8128_8129del
NG_009033.1:g.19650_19651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*194_*195del (FTH1) MANE Select	ENSP00000273550.7:n.*194_*195del
ENST00000273550.11:c.*194_*195del (FTH1)	ENSP00000273550.7:n.*194_*195del
ENST00000449131.6:c.*1384_*1385del (BEST1)	ENSP00000399709.2:n.*1384_*1385del
ENST00000529191.5:c.114+2779_114+2780del (FTH1)	ENSP00000431659.1:n.114+2779_114+2780del
ENST00000529631.5:c.114+2779_114+2780del (FTH1)	ENSP00000431575.1:n.114+2779_114+2780del
ENST00000530019.5:c.261+836_261+837del (FTH1)	ENSP00000433470.1:n.261+836_261+837del
NM_002032.2:c.*194_*195del (FTH1)	NP_002023.2:n.*194_*195del
NM_002032.3:c.*194_*195del (FTH1) MANE Select	NP_002023.2:n.*194_*195del
NM_001139443.2:c.*1384_*1385del (BEST1)	NP_001132915.1:n.*1384_*1385del
NM_001363591.2:c.*1384_*1385del (BEST1)	NP_001350520.1:n.*1384_*1385del
NM_001363593.2:c.*1384_*1385del (BEST1)	NP_001350522.1:n.*1384_*1385del