Canonical Allele Identifier: CA222946077

Linked Data

dbSNP Id: rs745847733

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964650_61964671del , CM000673.2:g.61964650_61964671del GRCh38
NC_000011.9:g.61732122_61732143del , CM000673.1:g.61732122_61732143del GRCh37
NC_000011.8:g.61488698_61488719del NCBI36
NG_008346.1:g.7991_8012del
NG_009033.1:g.19767_19788del

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.*57_*78del (FTH1) ENSP00000484477.1:n.*57_*78del
ENST00000273550.12:c.*57_*78del (FTH1) MANE Select ENSP00000273550.7:n.*57_*78del
ENST00000273550.11:c.*57_*78del (FTH1) ENSP00000273550.7:n.*57_*78del
ENST00000449131.6:c.*1501_*1522del (BEST1) ENSP00000399709.2:n.*1501_*1522del
ENST00000526640.5:c.*57_*78del (FTH1) ENSP00000433321.1:n.*57_*78del
ENST00000529191.5:c.114+2642_114+2663del (FTH1) ENSP00000431659.1:n.114+2642_114+2663del
ENST00000529631.5:c.114+2642_114+2663del (FTH1) ENSP00000431575.1:n.114+2642_114+2663del
ENST00000530019.5:c.261+699_261+720del (FTH1) ENSP00000433470.1:n.261+699_261+720del
ENST00000532601.1:c.*57_*78del (FTH1) ENSP00000435111.1:n.*57_*78del
ENST00000532829.5:c.*314_*335del (FTH1) ENSP00000432223.1:n.*314_*335del
ENST00000534180.1:c.*518_*539del (FTH1) ENSP00000434403.1:n.*518_*539del
ENST00000620041.4:c.*57_*78del (FTH1) ENSP00000484477.1:n.*57_*78del
NM_002032.2:c.*57_*78del (FTH1) NP_002023.2:n.*57_*78del
NM_002032.3:c.*57_*78del (FTH1) MANE Select NP_002023.2:n.*57_*78del
NM_001139443.2:c.*1501_*1522del (BEST1) NP_001132915.1:n.*1501_*1522del
NM_001363591.2:c.*1501_*1522del (BEST1) NP_001350520.1:n.*1501_*1522del
NM_001363593.2:c.*1501_*1522del (BEST1) NP_001350522.1:n.*1501_*1522del