Canonical Allele Identifier: CA2792335839

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960079_61960083del , CM000673.2:g.61960079_61960083del	GRCh38
NC_000011.9:g.61727551_61727555del , CM000673.1:g.61727551_61727555del	GRCh37
NC_000011.8:g.61484127_61484131del	NCBI36
NG_009033.1:g.15196_15200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1100+36_1100+40del (BEST1) MANE Select	ENSP00000367282.4:n.1100+36_1100+40del
ENST00000378043.8:c.1100+36_1100+40del (BEST1)	ENSP00000367282.4:n.1100+36_1100+40del
ENST00000449131.6:c.920+36_920+40del (BEST1)	ENSP00000399709.2:n.920+36_920+40del
ENST00000524877.5:n.2767_2771del (BEST1)
ENST00000524926.5:c.1303+36_1303+40del (BEST1)	ENSP00000432681.1:n.1303+36_1303+40del
ENST00000526988.1:c.985+36_985+40del (BEST1)	ENSP00000433195.1:n.985+36_985+40del
ENST00000529191.5:c.115-156_115-152del (FTH1)	ENSP00000431659.1:n.115-156_115-152del
ENST00000529631.5:c.115-179_115-175del (FTH1)	ENSP00000431575.1:n.115-179_115-175del
ENST00000530019.5:c.262-179_262-175del (FTH1)	ENSP00000433470.1:n.262-179_262-175del
ENST00000534553.5:c.164-2176_164-2172del (BEST1)	ENSP00000431189.1:n.164-2176_164-2172del
NM_001139443.1:c.920+36_920+40del (BEST1)	NP_001132915.1:n.920+36_920+40del
NM_001300786.1:c.839+36_839+40del (BEST1)	NP_001287715.1:n.839+36_839+40del
NM_001300787.1:c.920+36_920+40del (BEST1)	NP_001287716.1:n.920+36_920+40del
NM_004183.3:c.1100+36_1100+40del (BEST1)	NP_004174.1:n.1100+36_1100+40del
XM_005274210.2:c.1100+36_1100+40del (BEST1)	XP_005274267.1:n.1100+36_1100+40del
XM_005274215.2:c.782+36_782+40del (BEST1)	XP_005274272.1:n.782+36_782+40del
XM_005274216.2:c.1123+36_1123+40del (BEST1)	XP_005274273.1:n.1123+36_1123+40del
XM_005274218.3:c.985+36_985+40del (BEST1)	XP_005274275.1:n.985+36_985+40del
XM_005274219.2:c.867+1781_867+1785del (BEST1)	XP_005274276.1:n.867+1781_867+1785del
XM_005274221.2:c.715-2176_715-2172del (BEST1)	XP_005274278.1:n.715-2176_715-2172del
XM_011545229.1:c.1100+36_1100+40del (BEST1)	XP_011543531.1:n.1100+36_1100+40del
XM_011545230.1:c.1007+36_1007+40del (BEST1)	XP_011543532.1:n.1007+36_1007+40del
XM_011545231.1:c.782+36_782+40del (BEST1)	XP_011543533.1:n.782+36_782+40del
XM_011545232.1:c.1303+36_1303+40del (BEST1)	XP_011543534.1:n.1303+36_1303+40del
XM_011545233.1:c.257+36_257+40del (BEST1)	XP_011543535.1:n.257+36_257+40del
NM_001363591.1:c.782+36_782+40del (BEST1)	NP_001350520.1:n.782+36_782+40del
NM_001363592.1:c.1303+36_1303+40del (BEST1)	NP_001350521.1:n.1303+36_1303+40del
NM_001363593.1:c.128+36_128+40del (BEST1)	NP_001350522.1:n.128+36_128+40del
NR_134580.1:n.1883+36_1883+40del (BEST1)
XM_005274210.4:c.1100+36_1100+40del (BEST1)	XP_005274267.1:n.1100+36_1100+40del
XM_005274215.4:c.782+36_782+40del (BEST1)	XP_005274272.1:n.782+36_782+40del
XM_005274216.4:c.1123+36_1123+40del (BEST1)	XP_005274273.1:n.1123+36_1123+40del
XM_005274219.4:c.867+1781_867+1785del (BEST1)	XP_005274276.1:n.867+1781_867+1785del
XM_005274221.4:c.715-2176_715-2172del (BEST1)	XP_005274278.1:n.715-2176_715-2172del
XM_011545229.3:c.1100+36_1100+40del (BEST1)	XP_011543531.1:n.1100+36_1100+40del
XM_011545230.3:c.1007+36_1007+40del (BEST1)	XP_011543532.1:n.1007+36_1007+40del
XM_011545233.3:c.257+36_257+40del (BEST1)	XP_011543535.1:n.257+36_257+40del
XM_017018230.2:c.985+36_985+40del (BEST1)	XP_016873719.1:n.985+36_985+40del
XR_001747952.2:n.1801+36_1801+40del (BEST1)
XR_001747953.2:n.1557+1781_1557+1785del (BEST1)
XR_001747954.2:n.1405-2176_1405-2172del (BEST1)
NM_004183.4:c.1100+36_1100+40del (BEST1) MANE Select	NP_004174.1:n.1100+36_1100+40del
NM_001139443.2:c.920+36_920+40del (BEST1)	NP_001132915.1:n.920+36_920+40del
NM_001300786.2:c.839+36_839+40del (BEST1)	NP_001287715.1:n.839+36_839+40del
NM_001300787.2:c.920+36_920+40del (BEST1)	NP_001287716.1:n.920+36_920+40del
NM_001363591.2:c.782+36_782+40del (BEST1)	NP_001350520.1:n.782+36_782+40del
NM_001363593.2:c.128+36_128+40del (BEST1)	NP_001350522.1:n.128+36_128+40del
NR_134580.2:n.1416+36_1416+40del (BEST1)