Canonical Allele Identifier: CA2613931182

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964494-C-CCCCAGGAAATAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964494_61964495insCCCAGGAAATAAAT , CM000673.2:g.61964494_61964495insCCCAGGAAATAAAT	GRCh38
NC_000011.9:g.61731966_61731967insCCCAGGAAATAAAT , CM000673.1:g.61731966_61731967insCCCAGGAAATAAAT	GRCh37
NC_000011.8:g.61488542_61488543insCCCAGGAAATAAAT	NCBI36
NG_008346.1:g.8166_8167insATTTATTTCCTGGG
NG_009033.1:g.19611_19612insCCCAGGAAATAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*232_*233insATTTATTTCCTGGG (FTH1) MANE Select	ENSP00000273550.7:n.*232_*233insATTTATTTCCTGGG
ENST00000273550.11:c.*232_*233insATTTATTTCCTGGG (FTH1)	ENSP00000273550.7:n.*232_*233insATTTATTTCCTGGG
ENST00000449131.6:c.*1345_*1346insCCCAGGAAATAAAT (BEST1)	ENSP00000399709.2:n.*1345_*1346insCCCAGGAAATAAAT
ENST00000529191.5:c.114+2817_114+2818insATTTATTTCCTGGG (FTH1)	ENSP00000431659.1:n.114+2817_114+2818insATTTATTTCCTGGG
ENST00000529631.5:c.114+2817_114+2818insATTTATTTCCTGGG (FTH1)	ENSP00000431575.1:n.114+2817_114+2818insATTTATTTCCTGGG
ENST00000530019.5:c.261+874_261+875insATTTATTTCCTGGG (FTH1)	ENSP00000433470.1:n.261+874_261+875insATTTATTTCCTGGG
NM_002032.2:c.*232_*233insATTTATTTCCTGGG (FTH1)	NP_002023.2:n.*232_*233insATTTATTTCCTGGG
NM_002032.3:c.*232_*233insATTTATTTCCTGGG (FTH1) MANE Select	NP_002023.2:n.*232_*233insATTTATTTCCTGGG
NM_001139443.2:c.*1345_*1346insCCCAGGAAATAAAT (BEST1)	NP_001132915.1:n.*1345_*1346insCCCAGGAAATAAAT
NM_001363591.2:c.*1345_*1346insCCCAGGAAATAAAT (BEST1)	NP_001350520.1:n.*1345_*1346insCCCAGGAAATAAAT
NM_001363593.2:c.*1345_*1346insCCCAGGAAATAAAT (BEST1)	NP_001350522.1:n.*1345_*1346insCCCAGGAAATAAAT