Canonical Allele Identifier: CA2792335843

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960097_61960100del , CM000673.2:g.61960097_61960100del	GRCh38
NC_000011.9:g.61727569_61727572del , CM000673.1:g.61727569_61727572del	GRCh37
NC_000011.8:g.61484145_61484148del	NCBI36
NG_009033.1:g.15214_15217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1100+54_1100+57del (BEST1) MANE Select	ENSP00000367282.4:n.1100+54_1100+57del
ENST00000378043.8:c.1100+54_1100+57del (BEST1)	ENSP00000367282.4:n.1100+54_1100+57del
ENST00000449131.6:c.920+54_920+57del (BEST1)	ENSP00000399709.2:n.920+54_920+57del
ENST00000524877.5:n.2785_2788del (BEST1)
ENST00000524926.5:c.1303+54_1303+57del (BEST1)	ENSP00000432681.1:n.1303+54_1303+57del
ENST00000526988.1:c.985+54_985+57del (BEST1)	ENSP00000433195.1:n.985+54_985+57del
ENST00000529191.5:c.115-171_115-168del (FTH1)	ENSP00000431659.1:n.115-171_115-168del
ENST00000529631.5:c.115-194_115-191del (FTH1)	ENSP00000431575.1:n.115-194_115-191del
ENST00000530019.5:c.262-194_262-191del (FTH1)	ENSP00000433470.1:n.262-194_262-191del
ENST00000534553.5:c.164-2158_164-2155del (BEST1)	ENSP00000431189.1:n.164-2158_164-2155del
NM_001139443.1:c.920+54_920+57del (BEST1)	NP_001132915.1:n.920+54_920+57del
NM_001300786.1:c.839+54_839+57del (BEST1)	NP_001287715.1:n.839+54_839+57del
NM_001300787.1:c.920+54_920+57del (BEST1)	NP_001287716.1:n.920+54_920+57del
NM_004183.3:c.1100+54_1100+57del (BEST1)	NP_004174.1:n.1100+54_1100+57del
XM_005274210.2:c.1100+54_1100+57del (BEST1)	XP_005274267.1:n.1100+54_1100+57del
XM_005274215.2:c.782+54_782+57del (BEST1)	XP_005274272.1:n.782+54_782+57del
XM_005274216.2:c.1123+54_1123+57del (BEST1)	XP_005274273.1:n.1123+54_1123+57del
XM_005274218.3:c.985+54_985+57del (BEST1)	XP_005274275.1:n.985+54_985+57del
XM_005274219.2:c.867+1799_867+1802del (BEST1)	XP_005274276.1:n.867+1799_867+1802del
XM_005274221.2:c.715-2158_715-2155del (BEST1)	XP_005274278.1:n.715-2158_715-2155del
XM_011545229.1:c.1100+54_1100+57del (BEST1)	XP_011543531.1:n.1100+54_1100+57del
XM_011545230.1:c.1007+54_1007+57del (BEST1)	XP_011543532.1:n.1007+54_1007+57del
XM_011545231.1:c.782+54_782+57del (BEST1)	XP_011543533.1:n.782+54_782+57del
XM_011545232.1:c.1303+54_1303+57del (BEST1)	XP_011543534.1:n.1303+54_1303+57del
XM_011545233.1:c.257+54_257+57del (BEST1)	XP_011543535.1:n.257+54_257+57del
NM_001363591.1:c.782+54_782+57del (BEST1)	NP_001350520.1:n.782+54_782+57del
NM_001363592.1:c.1303+54_1303+57del (BEST1)	NP_001350521.1:n.1303+54_1303+57del
NM_001363593.1:c.128+54_128+57del (BEST1)	NP_001350522.1:n.128+54_128+57del
NR_134580.1:n.1883+54_1883+57del (BEST1)
XM_005274210.4:c.1100+54_1100+57del (BEST1)	XP_005274267.1:n.1100+54_1100+57del
XM_005274215.4:c.782+54_782+57del (BEST1)	XP_005274272.1:n.782+54_782+57del
XM_005274216.4:c.1123+54_1123+57del (BEST1)	XP_005274273.1:n.1123+54_1123+57del
XM_005274219.4:c.867+1799_867+1802del (BEST1)	XP_005274276.1:n.867+1799_867+1802del
XM_005274221.4:c.715-2158_715-2155del (BEST1)	XP_005274278.1:n.715-2158_715-2155del
XM_011545229.3:c.1100+54_1100+57del (BEST1)	XP_011543531.1:n.1100+54_1100+57del
XM_011545230.3:c.1007+54_1007+57del (BEST1)	XP_011543532.1:n.1007+54_1007+57del
XM_011545233.3:c.257+54_257+57del (BEST1)	XP_011543535.1:n.257+54_257+57del
XM_017018230.2:c.985+54_985+57del (BEST1)	XP_016873719.1:n.985+54_985+57del
XR_001747952.2:n.1801+54_1801+57del (BEST1)
XR_001747953.2:n.1557+1799_1557+1802del (BEST1)
XR_001747954.2:n.1405-2158_1405-2155del (BEST1)
NM_004183.4:c.1100+54_1100+57del (BEST1) MANE Select	NP_004174.1:n.1100+54_1100+57del
NM_001139443.2:c.920+54_920+57del (BEST1)	NP_001132915.1:n.920+54_920+57del
NM_001300786.2:c.839+54_839+57del (BEST1)	NP_001287715.1:n.839+54_839+57del
NM_001300787.2:c.920+54_920+57del (BEST1)	NP_001287716.1:n.920+54_920+57del
NM_001363591.2:c.782+54_782+57del (BEST1)	NP_001350520.1:n.782+54_782+57del
NM_001363593.2:c.128+54_128+57del (BEST1)	NP_001350522.1:n.128+54_128+57del
NR_134580.2:n.1416+54_1416+57del (BEST1)