Canonical Allele Identifier: CA2613931354

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964969-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964972_61964973del , CM000673.2:g.61964972_61964973del	GRCh38
NC_000011.9:g.61732444_61732445del , CM000673.1:g.61732444_61732445del	GRCh37
NC_000011.8:g.61489020_61489021del	NCBI36
NG_008346.1:g.7690_7691del
NG_009033.1:g.20089_20090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.387+16_387+17del (FTH1)	ENSP00000484477.1:n.387+16_387+17del
ENST00000273550.12:c.387+16_387+17del (FTH1) MANE Select	ENSP00000273550.7:n.387+16_387+17del
ENST00000273550.11:c.387+16_387+17del (FTH1)	ENSP00000273550.7:n.387+16_387+17del
ENST00000449131.6:c.*1823_*1824del (BEST1)	ENSP00000399709.2:n.*1823_*1824del
ENST00000526640.5:c.297+16_297+17del (FTH1)	ENSP00000433321.1:n.297+16_297+17del
ENST00000529191.5:c.114+2341_114+2342del (FTH1)	ENSP00000431659.1:n.114+2341_114+2342del
ENST00000529631.5:c.114+2341_114+2342del (FTH1)	ENSP00000431575.1:n.114+2341_114+2342del
ENST00000530019.5:c.261+398_261+399del (FTH1)	ENSP00000433470.1:n.261+398_261+399del
ENST00000532601.1:c.177+16_177+17del (FTH1)	ENSP00000435111.1:n.177+16_177+17del
ENST00000532829.5:c.*92+16_*92+17del (FTH1)	ENSP00000432223.1:n.*92+16_*92+17del
ENST00000533138.1:n.831+16_831+17del (FTH1)
ENST00000534180.1:c.*296+16_*296+17del (FTH1)	ENSP00000434403.1:n.*296+16_*296+17del
ENST00000534719.1:n.564_565del (FTH1)
ENST00000620041.4:c.387+16_387+17del (FTH1)	ENSP00000484477.1:n.387+16_387+17del
NM_002032.2:c.387+16_387+17del (FTH1)	NP_002023.2:n.387+16_387+17del
NM_002032.3:c.387+16_387+17del (FTH1) MANE Select	NP_002023.2:n.387+16_387+17del
NM_001139443.2:c.*1823_*1824del (BEST1)	NP_001132915.1:n.*1823_*1824del
NM_001363591.2:c.*1823_*1824del (BEST1)	NP_001350520.1:n.*1823_*1824del
NM_001363593.2:c.*1823_*1824del (BEST1)	NP_001350522.1:n.*1823_*1824del