Canonical Allele Identifier: CA2613931188

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964496-G-GCCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964497_61964498insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC , CM000673.2:g.61964497_61964498insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC	GRCh38
NC_000011.9:g.61731969_61731970insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC , CM000673.1:g.61731969_61731970insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC	GRCh37
NC_000011.8:g.61488545_61488546insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC	NCBI36
NG_008346.1:g.8164_8165insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG
NG_009033.1:g.19614_19615insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG (FTH1) MANE Select	ENSP00000273550.7:n.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTT...
ENST00000273550.11:c.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG (FTH1)	ENSP00000273550.7:n.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTT...
ENST00000449131.6:c.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC (BEST1)	ENSP00000399709.2:n.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAG...
ENST00000529191.5:c.114+2815_114+2816insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG (FTH1)	ENSP00000431659.1:n.114+2815_114+2816insGGGTTCCAATACTCACATGGG...
ENST00000529631.5:c.114+2815_114+2816insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG (FTH1)	ENSP00000431575.1:n.114+2815_114+2816insGGGTTCCAATACTCACATGGG...
ENST00000530019.5:c.261+872_261+873insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG (FTH1)	ENSP00000433470.1:n.261+872_261+873insGGGTTCCAATACTCACATGGGGG...
NM_002032.2:c.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG (FTH1)	NP_002023.2:n.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCA...
NM_002032.3:c.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCAGTGG (FTH1) MANE Select	NP_002023.2:n.*230_*231insGGGTTCCAATACTCACATGGGGGTCATTTTTGTCA...
NM_001139443.2:c.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC (BEST1)	NP_001132915.1:n.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAGTAT...
NM_001363591.2:c.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC (BEST1)	NP_001350520.1:n.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAGTAT...
NM_001363593.2:c.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAGTATTGGAACCCC (BEST1)	NP_001350522.1:n.*1348_*1349insCACTGACAAAAATGACCCCCATGTGAGTAT...