Canonical Allele Identifier: CA2613931258

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964578del , CM000673.2:g.61964578del GRCh38
NC_000011.9:g.61732050del , CM000673.1:g.61732050del GRCh37
NC_000011.8:g.61488626del NCBI36
NG_008346.1:g.8085del
NG_009033.1:g.19695del

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.*151del (FTH1) ENSP00000484477.1:n.*151del
ENST00000273550.12:c.*151del (FTH1) MANE Select ENSP00000273550.7:n.*151del
ENST00000273550.11:c.*151del (FTH1) ENSP00000273550.7:n.*151del
ENST00000449131.6:c.*1429del (BEST1) ENSP00000399709.2:n.*1429del
ENST00000529191.5:c.114+2736del (FTH1) ENSP00000431659.1:n.114+2736del
ENST00000529631.5:c.114+2736del (FTH1) ENSP00000431575.1:n.114+2736del
ENST00000530019.5:c.261+793del (FTH1) ENSP00000433470.1:n.261+793del
ENST00000532829.5:c.*408del (FTH1) ENSP00000432223.1:n.*408del
ENST00000534180.1:c.*612del (FTH1) ENSP00000434403.1:n.*612del
ENST00000620041.4:c.*151del (FTH1) ENSP00000484477.1:n.*151del
NM_002032.2:c.*151del (FTH1) NP_002023.2:n.*151del
NM_002032.3:c.*151del (FTH1) MANE Select NP_002023.2:n.*151del
NM_001139443.2:c.*1429del (BEST1) NP_001132915.1:n.*1429del
NM_001363591.2:c.*1429del (BEST1) NP_001350520.1:n.*1429del
NM_001363593.2:c.*1429del (BEST1) NP_001350522.1:n.*1429del