Canonical Allele Identifier: CA2792344615

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964566_61964567insACA , CM000673.2:g.61964566_61964567insACA	GRCh38
NC_000011.9:g.61732038_61732039insACA , CM000673.1:g.61732038_61732039insACA	GRCh37
NC_000011.8:g.61488614_61488615insACA	NCBI36
NG_008346.1:g.8094_8095insTGT
NG_009033.1:g.19683_19684insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*160_*161insTGT (FTH1)	ENSP00000484477.1:n.*160_*161insTGT
ENST00000273550.12:c.*160_*161insTGT (FTH1) MANE Select	ENSP00000273550.7:n.*160_*161insTGT
ENST00000273550.11:c.*160_*161insTGT (FTH1)	ENSP00000273550.7:n.*160_*161insTGT
ENST00000449131.6:c.*1417_*1418insACA (BEST1)	ENSP00000399709.2:n.*1417_*1418insACA
ENST00000529191.5:c.114+2745_114+2746insTGT (FTH1)	ENSP00000431659.1:n.114+2745_114+2746insTGT
ENST00000529631.5:c.114+2745_114+2746insTGT (FTH1)	ENSP00000431575.1:n.114+2745_114+2746insTGT
ENST00000530019.5:c.261+802_261+803insTGT (FTH1)	ENSP00000433470.1:n.261+802_261+803insTGT
ENST00000532829.5:c.*417_*418insTGT (FTH1)	ENSP00000432223.1:n.*417_*418insTGT
ENST00000534180.1:c.*621_*622insTGT (FTH1)	ENSP00000434403.1:n.*621_*622insTGT
ENST00000620041.4:c.*160_*161insTGT (FTH1)	ENSP00000484477.1:n.*160_*161insTGT
NM_002032.2:c.*160_*161insTGT (FTH1)	NP_002023.2:n.*160_*161insTGT
NM_002032.3:c.*160_*161insTGT (FTH1) MANE Select	NP_002023.2:n.*160_*161insTGT
NM_001139443.2:c.*1417_*1418insACA (BEST1)	NP_001132915.1:n.*1417_*1418insACA
NM_001363591.2:c.*1417_*1418insACA (BEST1)	NP_001350520.1:n.*1417_*1418insACA
NM_001363593.2:c.*1417_*1418insACA (BEST1)	NP_001350522.1:n.*1417_*1418insACA