Canonical Allele Identifier: CA2792344585

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964504_61964505insACAC , CM000673.2:g.61964504_61964505insACAC GRCh38
NC_000011.9:g.61731976_61731977insACAC , CM000673.1:g.61731976_61731977insACAC GRCh37
NC_000011.8:g.61488552_61488553insACAC NCBI36
NG_008346.1:g.8156_8157insGTGT
NG_009033.1:g.19621_19622insACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000273550.12:c.*222_*223insGTGT (FTH1) MANE Select ENSP00000273550.7:n.*222_*223insGTGT
ENST00000273550.11:c.*222_*223insGTGT (FTH1) ENSP00000273550.7:n.*222_*223insGTGT
ENST00000449131.6:c.*1355_*1356insACAC (BEST1) ENSP00000399709.2:n.*1355_*1356insACAC
ENST00000529191.5:c.114+2807_114+2808insGTGT (FTH1) ENSP00000431659.1:n.114+2807_114+2808insGTGT
ENST00000529631.5:c.114+2807_114+2808insGTGT (FTH1) ENSP00000431575.1:n.114+2807_114+2808insGTGT
ENST00000530019.5:c.261+864_261+865insGTGT (FTH1) ENSP00000433470.1:n.261+864_261+865insGTGT
NM_002032.2:c.*222_*223insGTGT (FTH1) NP_002023.2:n.*222_*223insGTGT
NM_002032.3:c.*222_*223insGTGT (FTH1) MANE Select NP_002023.2:n.*222_*223insGTGT
NM_001139443.2:c.*1355_*1356insACAC (BEST1) NP_001132915.1:n.*1355_*1356insACAC
NM_001363591.2:c.*1355_*1356insACAC (BEST1) NP_001350520.1:n.*1355_*1356insACAC
NM_001363593.2:c.*1355_*1356insACAC (BEST1) NP_001350522.1:n.*1355_*1356insACAC