Canonical Allele Identifier: CA679008662

Linked Data

dbSNP Id: rs1216539118

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964560del , CM000673.2:g.61964560del GRCh38
NC_000011.9:g.61732032del , CM000673.1:g.61732032del GRCh37
NC_000011.8:g.61488608del NCBI36
NG_008346.1:g.8102del
NG_009033.1:g.19677del

Transcript Alleles

HGVS Amino-acid Change
ENST00000273550.12:c.*168del (FTH1) MANE Select ENSP00000273550.7:n.*168del
ENST00000273550.11:c.*168del (FTH1) ENSP00000273550.7:n.*168del
ENST00000449131.6:c.*1411del (BEST1) ENSP00000399709.2:n.*1411del
ENST00000529191.5:c.114+2753del (FTH1) ENSP00000431659.1:n.114+2753del
ENST00000529631.5:c.114+2753del (FTH1) ENSP00000431575.1:n.114+2753del
ENST00000530019.5:c.261+810del (FTH1) ENSP00000433470.1:n.261+810del
NM_002032.2:c.*168del (FTH1) NP_002023.2:n.*168del
NM_002032.3:c.*168del (FTH1) MANE Select NP_002023.2:n.*168del
NM_001139443.2:c.*1411del (BEST1) NP_001132915.1:n.*1411del
NM_001363591.2:c.*1411del (BEST1) NP_001350520.1:n.*1411del
NM_001363593.2:c.*1411del (BEST1) NP_001350522.1:n.*1411del