Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964926_61964927delinsCT , CM000673.2:g.61964926_61964927delinsCT	GRCh38
NC_000011.9:g.61732398_61732399delinsCT , CM000673.1:g.61732398_61732399delinsCT	GRCh37
NC_000011.8:g.61488974_61488975delinsCT	NCBI36
NG_008346.1:g.7734_7735delinsAG
NG_009033.1:g.20043_20044delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.388-36_388-35delinsAG (FTH1)	ENSP00000484477.1:n.388-36_388-35delinsAG
ENST00000273550.12:c.388-36_388-35delinsAG (FTH1) MANE Select	ENSP00000273550.7:n.388-36_388-35delinsAG
ENST00000273550.11:c.388-36_388-35delinsAG (FTH1)	ENSP00000273550.7:n.388-36_388-35delinsAG
ENST00000449131.6:c.1777_1778delinsCT (BEST1)	ENSP00000399709.2:n.1777_1778delinsCT
ENST00000526640.5:c.298-36_298-35delinsAG (FTH1)	ENSP00000433321.1:n.298-36_298-35delinsAG
ENST00000529191.5:c.114+2385_114+2386delinsAG (FTH1)	ENSP00000431659.1:n.114+2385_114+2386delinsAG
ENST00000529631.5:c.114+2385_114+2386delinsAG (FTH1)	ENSP00000431575.1:n.114+2385_114+2386delinsAG
ENST00000530019.5:c.261+442_261+443delinsAG (FTH1)	ENSP00000433470.1:n.261+442_261+443delinsAG
ENST00000532601.1:c.178-36_178-35delinsAG (FTH1)	ENSP00000435111.1:n.178-36_178-35delinsAG
ENST00000532829.5:c.93-36_93-35delinsAG (FTH1)	ENSP00000432223.1:n.93-36_93-35delinsAG
ENST00000533138.1:n.832-36_832-35delinsAG (FTH1)
ENST00000534180.1:c.297-36_297-35delinsAG (FTH1)	ENSP00000434403.1:n.297-36_297-35delinsAG
ENST00000534719.1:n.608_609delinsAG (FTH1)
ENST00000620041.4:c.388-36_388-35delinsAG (FTH1)	ENSP00000484477.1:n.388-36_388-35delinsAG
NM_002032.2:c.388-36_388-35delinsAG (FTH1)	NP_002023.2:n.388-36_388-35delinsAG
NM_002032.3:c.388-36_388-35delinsAG (FTH1) MANE Select	NP_002023.2:n.388-36_388-35delinsAG
NM_001139443.2:c.1777_1778delinsCT (BEST1)	NP_001132915.1:n.1777_1778delinsCT
NM_001363591.2:c.1777_1778delinsCT (BEST1)	NP_001350520.1:n.1777_1778delinsCT
NM_001363593.2:c.1777_1778delinsCT (BEST1)	NP_001350522.1:n.1777_1778delinsCT