Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964969_61964970delinsTG , CM000673.2:g.61964969_61964970delinsTG	GRCh38
NC_000011.9:g.61732441_61732442delinsTG , CM000673.1:g.61732441_61732442delinsTG	GRCh37
NC_000011.8:g.61489017_61489018delinsTG	NCBI36
NG_008346.1:g.7691_7692delinsCA
NG_009033.1:g.20086_20087delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.387+17_387+18delinsCA (FTH1)	ENSP00000484477.1:n.387+17_387+18delinsCA
ENST00000273550.12:c.387+17_387+18delinsCA (FTH1) MANE Select	ENSP00000273550.7:n.387+17_387+18delinsCA
ENST00000273550.11:c.387+17_387+18delinsCA (FTH1)	ENSP00000273550.7:n.387+17_387+18delinsCA
ENST00000449131.6:c.1820_1821delinsTG (BEST1)	ENSP00000399709.2:n.1820_1821delinsTG
ENST00000526640.5:c.297+17_297+18delinsCA (FTH1)	ENSP00000433321.1:n.297+17_297+18delinsCA
ENST00000529191.5:c.114+2342_114+2343delinsCA (FTH1)	ENSP00000431659.1:n.114+2342_114+2343delinsCA
ENST00000529631.5:c.114+2342_114+2343delinsCA (FTH1)	ENSP00000431575.1:n.114+2342_114+2343delinsCA
ENST00000530019.5:c.261+399_261+400delinsCA (FTH1)	ENSP00000433470.1:n.261+399_261+400delinsCA
ENST00000532601.1:c.177+17_177+18delinsCA (FTH1)	ENSP00000435111.1:n.177+17_177+18delinsCA
ENST00000532829.5:c.92+17_92+18delinsCA (FTH1)	ENSP00000432223.1:n.92+17_92+18delinsCA
ENST00000533138.1:n.831+17_831+18delinsCA (FTH1)
ENST00000534180.1:c.296+17_296+18delinsCA (FTH1)	ENSP00000434403.1:n.296+17_296+18delinsCA
ENST00000534719.1:n.565_566delinsCA (FTH1)
ENST00000620041.4:c.387+17_387+18delinsCA (FTH1)	ENSP00000484477.1:n.387+17_387+18delinsCA
NM_002032.2:c.387+17_387+18delinsCA (FTH1)	NP_002023.2:n.387+17_387+18delinsCA
NM_002032.3:c.387+17_387+18delinsCA (FTH1) MANE Select	NP_002023.2:n.387+17_387+18delinsCA
NM_001139443.2:c.1820_1821delinsTG (BEST1)	NP_001132915.1:n.1820_1821delinsTG
NM_001363591.2:c.1820_1821delinsTG (BEST1)	NP_001350520.1:n.1820_1821delinsTG
NM_001363593.2:c.1820_1821delinsTG (BEST1)	NP_001350522.1:n.1820_1821delinsTG