Canonical Allele Identifier: CA1977539507

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964957_61964961delinsCCATT , CM000673.2:g.61964957_61964961delinsCCATT	GRCh38
NC_000011.9:g.61732429_61732433delinsCCATT , CM000673.1:g.61732429_61732433delinsCCATT	GRCh37
NC_000011.8:g.61489005_61489009delinsCCATT	NCBI36
NG_008346.1:g.7700_7704delinsAATGG
NG_009033.1:g.20074_20078delinsCCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.387+26_387+30delinsAATGG (FTH1)	ENSP00000484477.1:n.387+26_387+30delinsAATGG
ENST00000273550.12:c.387+26_387+30delinsAATGG (FTH1) MANE Select	ENSP00000273550.7:n.387+26_387+30delinsAATGG
ENST00000273550.11:c.387+26_387+30delinsAATGG (FTH1)	ENSP00000273550.7:n.387+26_387+30delinsAATGG
ENST00000449131.6:c.*1808_*1812delinsCCATT (BEST1)	ENSP00000399709.2:n.*1808_*1812delinsCCATT
ENST00000526640.5:c.297+26_297+30delinsAATGG (FTH1)	ENSP00000433321.1:n.297+26_297+30delinsAATGG
ENST00000529191.5:c.114+2351_114+2355delinsAATGG (FTH1)	ENSP00000431659.1:n.114+2351_114+2355delinsAATGG
ENST00000529631.5:c.114+2351_114+2355delinsAATGG (FTH1)	ENSP00000431575.1:n.114+2351_114+2355delinsAATGG
ENST00000530019.5:c.261+408_261+412delinsAATGG (FTH1)	ENSP00000433470.1:n.261+408_261+412delinsAATGG
ENST00000532601.1:c.177+26_177+30delinsAATGG (FTH1)	ENSP00000435111.1:n.177+26_177+30delinsAATGG
ENST00000532829.5:c.*92+26_*92+30delinsAATGG (FTH1)	ENSP00000432223.1:n.*92+26_*92+30delinsAATGG
ENST00000533138.1:n.831+26_831+30delinsAATGG (FTH1)
ENST00000534180.1:c.*296+26_*296+30delinsAATGG (FTH1)	ENSP00000434403.1:n.*296+26_*296+30delinsAATGG
ENST00000534719.1:n.574_578delinsAATGG (FTH1)
ENST00000620041.4:c.387+26_387+30delinsAATGG (FTH1)	ENSP00000484477.1:n.387+26_387+30delinsAATGG
NM_002032.2:c.387+26_387+30delinsAATGG (FTH1)	NP_002023.2:n.387+26_387+30delinsAATGG
NM_002032.3:c.387+26_387+30delinsAATGG (FTH1) MANE Select	NP_002023.2:n.387+26_387+30delinsAATGG
NM_001139443.2:c.*1808_*1812delinsCCATT (BEST1)	NP_001132915.1:n.*1808_*1812delinsCCATT
NM_001363591.2:c.*1808_*1812delinsCCATT (BEST1)	NP_001350520.1:n.*1808_*1812delinsCCATT
NM_001363593.2:c.*1808_*1812delinsCCATT (BEST1)	NP_001350522.1:n.*1808_*1812delinsCCATT