Canonical Allele Identifier: CA2613931161

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964463-CTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964464_61964468del , CM000673.2:g.61964464_61964468del	GRCh38
NC_000011.9:g.61731936_61731940del , CM000673.1:g.61731936_61731940del	GRCh37
NC_000011.8:g.61488512_61488516del	NCBI36
NG_008346.1:g.8193_8197del
NG_009033.1:g.19581_19585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*259_*263del (FTH1) MANE Select	ENSP00000273550.7:n.*259_*263del
ENST00000273550.11:c.*259_*263del (FTH1)	ENSP00000273550.7:n.*259_*263del
ENST00000449131.6:c.*1315_*1319del (BEST1)	ENSP00000399709.2:n.*1315_*1319del
ENST00000529191.5:c.114+2844_114+2848del (FTH1)	ENSP00000431659.1:n.114+2844_114+2848del
ENST00000529631.5:c.114+2844_114+2848del (FTH1)	ENSP00000431575.1:n.114+2844_114+2848del
ENST00000530019.5:c.261+901_261+905del (FTH1)	ENSP00000433470.1:n.261+901_261+905del
NM_002032.2:c.*259_*263del (FTH1)	NP_002023.2:n.*259_*263del
NM_002032.3:c.*259_*263del (FTH1) MANE Select	NP_002023.2:n.*259_*263del
NM_001139443.2:c.*1315_*1319del (BEST1)	NP_001132915.1:n.*1315_*1319del
NM_001363591.2:c.*1315_*1319del (BEST1)	NP_001350520.1:n.*1315_*1319del
NM_001363593.2:c.*1315_*1319del (BEST1)	NP_001350522.1:n.*1315_*1319del