Canonical Allele Identifier: CA2613931356

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964974-TTCCAATACTCACATGGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964977_61964995del , CM000673.2:g.61964977_61964995del	GRCh38
NC_000011.9:g.61732449_61732467del , CM000673.1:g.61732449_61732467del	GRCh37
NC_000011.8:g.61489025_61489043del	NCBI36
NG_008346.1:g.7668_7686del
NG_009033.1:g.20094_20112del

Transcript Alleles

HGVS	Amino-acid change
ENST00000620041.5:c.381_387+12del (FTH1)
ENST00000273550.12:c.381_387+12del (FTH1)
ENST00000273550.11:c.381_387+12del (FTH1)
ENST00000449131.6:c.*1828_*1846del (BEST1)	ENSP00000399709.2:n.*1828_*1846del
ENST00000526640.5:c.291_297+12del (FTH1)
ENST00000529191.5:c.114+2319_114+2337del (FTH1)	ENSP00000431659.1:n.114+2319_114+2337del
ENST00000529631.5:c.114+2319_114+2337del (FTH1)	ENSP00000431575.1:n.114+2319_114+2337del
ENST00000530019.5:c.261+376_261+394del (FTH1)	ENSP00000433470.1:n.261+376_261+394del
ENST00000532601.1:c.171_177+12del (FTH1)
ENST00000532829.5:c.*86_*92+12del (FTH1)
ENST00000533138.1:n.825_831+12del (FTH1)
ENST00000534180.1:c.*290_*296+12del (FTH1)
ENST00000534719.1:n.542_560del (FTH1)
ENST00000620041.4:c.381_387+12del (FTH1)
NM_002032.2:c.381_387+12del (FTH1)
NM_002032.3:c.381_387+12del (FTH1)
NM_001139443.2:c.*1828_*1846del (BEST1)	NP_001132915.1:n.*1828_*1846del
NM_001363591.2:c.*1828_*1846del (BEST1)	NP_001350520.1:n.*1828_*1846del
NM_001363593.2:c.*1828_*1846del (BEST1)	NP_001350522.1:n.*1828_*1846del