Canonical Allele Identifier: CA2792344605

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964539_61964540insT , CM000673.2:g.61964539_61964540insT	GRCh38
NC_000011.9:g.61732011_61732012insT , CM000673.1:g.61732011_61732012insT	GRCh37
NC_000011.8:g.61488587_61488588insT	NCBI36
NG_008346.1:g.8121_8122insA
NG_009033.1:g.19656_19657insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*187_*188insA (FTH1) MANE Select	ENSP00000273550.7:n.*187_*188insA
ENST00000273550.11:c.*187_*188insA (FTH1)	ENSP00000273550.7:n.*187_*188insA
ENST00000449131.6:c.*1390_*1391insT (BEST1)	ENSP00000399709.2:n.*1390_*1391insT
ENST00000529191.5:c.114+2772_114+2773insA (FTH1)	ENSP00000431659.1:n.114+2772_114+2773insA
ENST00000529631.5:c.114+2772_114+2773insA (FTH1)	ENSP00000431575.1:n.114+2772_114+2773insA
ENST00000530019.5:c.261+829_261+830insA (FTH1)	ENSP00000433470.1:n.261+829_261+830insA
NM_002032.2:c.*187_*188insA (FTH1)	NP_002023.2:n.*187_*188insA
NM_002032.3:c.*187_*188insA (FTH1) MANE Select	NP_002023.2:n.*187_*188insA
NM_001139443.2:c.*1390_*1391insT (BEST1)	NP_001132915.1:n.*1390_*1391insT
NM_001363591.2:c.*1390_*1391insT (BEST1)	NP_001350520.1:n.*1390_*1391insT
NM_001363593.2:c.*1390_*1391insT (BEST1)	NP_001350522.1:n.*1390_*1391insT