Canonical Allele Identifier: CA2792335837

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960061_61960062insACTC , CM000673.2:g.61960061_61960062insACTC	GRCh38
NC_000011.9:g.61727533_61727534insACTC , CM000673.1:g.61727533_61727534insACTC	GRCh37
NC_000011.8:g.61484109_61484110insACTC	NCBI36
NG_009033.1:g.15178_15179insACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1100+18_1100+19insACTC (BEST1) MANE Select	ENSP00000367282.4:n.1100+18_1100+19insACTC
ENST00000378043.8:c.1100+18_1100+19insACTC (BEST1)	ENSP00000367282.4:n.1100+18_1100+19insACTC
ENST00000449131.6:c.920+18_920+19insACTC (BEST1)	ENSP00000399709.2:n.920+18_920+19insACTC
ENST00000524877.5:n.2749_2750insACTC (BEST1)
ENST00000524926.5:c.1303+18_1303+19insACTC (BEST1)	ENSP00000432681.1:n.1303+18_1303+19insACTC
ENST00000526988.1:c.985+18_985+19insACTC (BEST1)	ENSP00000433195.1:n.985+18_985+19insACTC
ENST00000529191.5:c.115-135_115-134insGAGT (FTH1)	ENSP00000431659.1:n.115-135_115-134insGAGT
ENST00000529631.5:c.115-158_115-157insGAGT (FTH1)	ENSP00000431575.1:n.115-158_115-157insGAGT
ENST00000530019.5:c.262-158_262-157insGAGT (FTH1)	ENSP00000433470.1:n.262-158_262-157insGAGT
ENST00000534553.5:c.164-2194_164-2193insACTC (BEST1)	ENSP00000431189.1:n.164-2194_164-2193insACTC
NM_001139443.1:c.920+18_920+19insACTC (BEST1)	NP_001132915.1:n.920+18_920+19insACTC
NM_001300786.1:c.839+18_839+19insACTC (BEST1)	NP_001287715.1:n.839+18_839+19insACTC
NM_001300787.1:c.920+18_920+19insACTC (BEST1)	NP_001287716.1:n.920+18_920+19insACTC
NM_004183.3:c.1100+18_1100+19insACTC (BEST1)	NP_004174.1:n.1100+18_1100+19insACTC
XM_005274210.2:c.1100+18_1100+19insACTC (BEST1)	XP_005274267.1:n.1100+18_1100+19insACTC
XM_005274215.2:c.782+18_782+19insACTC (BEST1)	XP_005274272.1:n.782+18_782+19insACTC
XM_005274216.2:c.1123+18_1123+19insACTC (BEST1)	XP_005274273.1:n.1123+18_1123+19insACTC
XM_005274218.3:c.985+18_985+19insACTC (BEST1)	XP_005274275.1:n.985+18_985+19insACTC
XM_005274219.2:c.867+1763_867+1764insACTC (BEST1)	XP_005274276.1:n.867+1763_867+1764insACTC
XM_005274221.2:c.715-2194_715-2193insACTC (BEST1)	XP_005274278.1:n.715-2194_715-2193insACTC
XM_011545229.1:c.1100+18_1100+19insACTC (BEST1)	XP_011543531.1:n.1100+18_1100+19insACTC
XM_011545230.1:c.1007+18_1007+19insACTC (BEST1)	XP_011543532.1:n.1007+18_1007+19insACTC
XM_011545231.1:c.782+18_782+19insACTC (BEST1)	XP_011543533.1:n.782+18_782+19insACTC
XM_011545232.1:c.1303+18_1303+19insACTC (BEST1)	XP_011543534.1:n.1303+18_1303+19insACTC
XM_011545233.1:c.257+18_257+19insACTC (BEST1)	XP_011543535.1:n.257+18_257+19insACTC
NM_001363591.1:c.782+18_782+19insACTC (BEST1)	NP_001350520.1:n.782+18_782+19insACTC
NM_001363592.1:c.1303+18_1303+19insACTC (BEST1)	NP_001350521.1:n.1303+18_1303+19insACTC
NM_001363593.1:c.128+18_128+19insACTC (BEST1)	NP_001350522.1:n.128+18_128+19insACTC
NR_134580.1:n.1883+18_1883+19insACTC (BEST1)
XM_005274210.4:c.1100+18_1100+19insACTC (BEST1)	XP_005274267.1:n.1100+18_1100+19insACTC
XM_005274215.4:c.782+18_782+19insACTC (BEST1)	XP_005274272.1:n.782+18_782+19insACTC
XM_005274216.4:c.1123+18_1123+19insACTC (BEST1)	XP_005274273.1:n.1123+18_1123+19insACTC
XM_005274219.4:c.867+1763_867+1764insACTC (BEST1)	XP_005274276.1:n.867+1763_867+1764insACTC
XM_005274221.4:c.715-2194_715-2193insACTC (BEST1)	XP_005274278.1:n.715-2194_715-2193insACTC
XM_011545229.3:c.1100+18_1100+19insACTC (BEST1)	XP_011543531.1:n.1100+18_1100+19insACTC
XM_011545230.3:c.1007+18_1007+19insACTC (BEST1)	XP_011543532.1:n.1007+18_1007+19insACTC
XM_011545233.3:c.257+18_257+19insACTC (BEST1)	XP_011543535.1:n.257+18_257+19insACTC
XM_017018230.2:c.985+18_985+19insACTC (BEST1)	XP_016873719.1:n.985+18_985+19insACTC
XR_001747952.2:n.1801+18_1801+19insACTC (BEST1)
XR_001747953.2:n.1557+1763_1557+1764insACTC (BEST1)
XR_001747954.2:n.1405-2194_1405-2193insACTC (BEST1)
NM_004183.4:c.1100+18_1100+19insACTC (BEST1) MANE Select	NP_004174.1:n.1100+18_1100+19insACTC
NM_001139443.2:c.920+18_920+19insACTC (BEST1)	NP_001132915.1:n.920+18_920+19insACTC
NM_001300786.2:c.839+18_839+19insACTC (BEST1)	NP_001287715.1:n.839+18_839+19insACTC
NM_001300787.2:c.920+18_920+19insACTC (BEST1)	NP_001287716.1:n.920+18_920+19insACTC
NM_001363591.2:c.782+18_782+19insACTC (BEST1)	NP_001350520.1:n.782+18_782+19insACTC
NM_001363593.2:c.128+18_128+19insACTC (BEST1)	NP_001350522.1:n.128+18_128+19insACTC
NR_134580.2:n.1416+18_1416+19insACTC (BEST1)