Canonical Allele Identifier: CA2613931178

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964488-G-GCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964488_61964489insCACA , CM000673.2:g.61964488_61964489insCACA	GRCh38
NC_000011.9:g.61731960_61731961insCACA , CM000673.1:g.61731960_61731961insCACA	GRCh37
NC_000011.8:g.61488536_61488537insCACA	NCBI36
NG_008346.1:g.8172_8173insTGTG
NG_009033.1:g.19605_19606insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*238_*239insTGTG (FTH1) MANE Select	ENSP00000273550.7:n.*238_*239insTGTG
ENST00000273550.11:c.*238_*239insTGTG (FTH1)	ENSP00000273550.7:n.*238_*239insTGTG
ENST00000449131.6:c.*1339_*1340insCACA (BEST1)	ENSP00000399709.2:n.*1339_*1340insCACA
ENST00000529191.5:c.114+2823_114+2824insTGTG (FTH1)	ENSP00000431659.1:n.114+2823_114+2824insTGTG
ENST00000529631.5:c.114+2823_114+2824insTGTG (FTH1)	ENSP00000431575.1:n.114+2823_114+2824insTGTG
ENST00000530019.5:c.261+880_261+881insTGTG (FTH1)	ENSP00000433470.1:n.261+880_261+881insTGTG
NM_002032.2:c.*238_*239insTGTG (FTH1)	NP_002023.2:n.*238_*239insTGTG
NM_002032.3:c.*238_*239insTGTG (FTH1) MANE Select	NP_002023.2:n.*238_*239insTGTG
NM_001139443.2:c.*1339_*1340insCACA (BEST1)	NP_001132915.1:n.*1339_*1340insCACA
NM_001363591.2:c.*1339_*1340insCACA (BEST1)	NP_001350520.1:n.*1339_*1340insCACA
NM_001363593.2:c.*1339_*1340insCACA (BEST1)	NP_001350522.1:n.*1339_*1340insCACA