Canonical Allele Identifier: CA679008652

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1216735249
• gnomAD v4: 11-61964529-A-AT
• MyVariant Identifiers: chr11:g.61732001_61732002insT (hg19) ; chr11:g.61964529_61964530insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964532dup , CM000673.2:g.61964532dup	GRCh38
NC_000011.9:g.61732004dup , CM000673.1:g.61732004dup	GRCh37
NC_000011.8:g.61488580dup	NCBI36
NG_008346.1:g.8131dup
NG_009033.1:g.19649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*197dup (FTH1) MANE Select	ENSP00000273550.7:n.*197dup
ENST00000273550.11:c.*197dup (FTH1)	ENSP00000273550.7:n.*197dup
ENST00000449131.6:c.*1383dup (BEST1)	ENSP00000399709.2:n.*1383dup
ENST00000529191.5:c.114+2782dup (FTH1)	ENSP00000431659.1:n.114+2782dup
ENST00000529631.5:c.114+2782dup (FTH1)	ENSP00000431575.1:n.114+2782dup
ENST00000530019.5:c.261+839dup (FTH1)	ENSP00000433470.1:n.261+839dup
NM_002032.2:c.*197dup (FTH1)	NP_002023.2:n.*197dup
NM_002032.3:c.*197dup (FTH1) MANE Select	NP_002023.2:n.*197dup
NM_001139443.2:c.*1383dup (BEST1)	NP_001132915.1:n.*1383dup
NM_001363591.2:c.*1383dup (BEST1)	NP_001350520.1:n.*1383dup
NM_001363593.2:c.*1383dup (BEST1)	NP_001350522.1:n.*1383dup