Canonical Allele Identifier: CA2613931179

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964491-C-CTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964491_61964492insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG , CM000673.2:g.61964491_61964492insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG	GRCh38
NC_000011.9:g.61731963_61731964insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG , CM000673.1:g.61731963_61731964insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG	GRCh37
NC_000011.8:g.61488539_61488540insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG	NCBI36
NG_008346.1:g.8169_8170insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA
NG_009033.1:g.19608_19609insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA (FTH1) MANE Select	ENSP00000273550.7:n.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTC...
ENST00000273550.11:c.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA (FTH1)	ENSP00000273550.7:n.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTC...
ENST00000449131.6:c.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG (BEST1)	ENSP00000399709.2:n.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATG...
ENST00000529191.5:c.114+2820_114+2821insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA (FTH1)	ENSP00000431659.1:n.114+2820_114+2821insCCAATACTCACATGGGGGTCA...
ENST00000529631.5:c.114+2820_114+2821insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA (FTH1)	ENSP00000431575.1:n.114+2820_114+2821insCCAATACTCACATGGGGGTCA...
ENST00000530019.5:c.261+877_261+878insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA (FTH1)	ENSP00000433470.1:n.261+877_261+878insCCAATACTCACATGGGGGTCATT...
NM_002032.2:c.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA (FTH1)	NP_002023.2:n.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGC...
NM_002032.3:c.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGCCA (FTH1) MANE Select	NP_002023.2:n.*235_*236insCCAATACTCACATGGGGGTCATTTTTGTCAGTGGC...
NM_001139443.2:c.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG (BEST1)	NP_001132915.1:n.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATGTGA...
NM_001363591.2:c.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG (BEST1)	NP_001350520.1:n.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATGTGA...
NM_001363593.2:c.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATGTGAGTATTGG (BEST1)	NP_001350522.1:n.*1342_*1343insTGGCCACTGACAAAAATGACCCCCATGTGA...