Canonical Allele Identifier: CA1977535011

Gene: BEST1 FTH1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960065_61960066delinsTG , CM000673.2:g.61960065_61960066delinsTG	GRCh38
NC_000011.9:g.61727537_61727538delinsTG , CM000673.1:g.61727537_61727538delinsTG	GRCh37
NC_000011.8:g.61484113_61484114delinsTG	NCBI36
NG_009033.1:g.15182_15183delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1100+22_1100+23delinsTG (BEST1) MANE Select	ENSP00000367282.4:n.1100+22_1100+23delinsTG
ENST00000378043.8:c.1100+22_1100+23delinsTG (BEST1)	ENSP00000367282.4:n.1100+22_1100+23delinsTG
ENST00000449131.6:c.920+22_920+23delinsTG (BEST1)	ENSP00000399709.2:n.920+22_920+23delinsTG
ENST00000524877.5:n.2753_2754delinsTG (BEST1)
ENST00000524926.5:c.1303+22_1303+23delinsTG (BEST1)	ENSP00000432681.1:n.1303+22_1303+23delinsTG
ENST00000526988.1:c.985+22_985+23delinsTG (BEST1)	ENSP00000433195.1:n.985+22_985+23delinsTG
ENST00000529191.5:c.115-139_115-138delinsCA (FTH1)	ENSP00000431659.1:n.115-139_115-138delinsCA
ENST00000529631.5:c.115-162_115-161delinsCA (FTH1)	ENSP00000431575.1:n.115-162_115-161delinsCA
ENST00000530019.5:c.262-162_262-161delinsCA (FTH1)	ENSP00000433470.1:n.262-162_262-161delinsCA
ENST00000534553.5:c.164-2190_164-2189delinsTG (BEST1)	ENSP00000431189.1:n.164-2190_164-2189delinsTG
NM_001139443.1:c.920+22_920+23delinsTG (BEST1)	NP_001132915.1:n.920+22_920+23delinsTG
NM_001300786.1:c.839+22_839+23delinsTG (BEST1)	NP_001287715.1:n.839+22_839+23delinsTG
NM_001300787.1:c.920+22_920+23delinsTG (BEST1)	NP_001287716.1:n.920+22_920+23delinsTG
NM_004183.3:c.1100+22_1100+23delinsTG (BEST1)	NP_004174.1:n.1100+22_1100+23delinsTG
XM_005274210.2:c.1100+22_1100+23delinsTG (BEST1)	XP_005274267.1:n.1100+22_1100+23delinsTG
XM_005274215.2:c.782+22_782+23delinsTG (BEST1)	XP_005274272.1:n.782+22_782+23delinsTG
XM_005274216.2:c.1123+22_1123+23delinsTG (BEST1)	XP_005274273.1:n.1123+22_1123+23delinsTG
XM_005274218.3:c.985+22_985+23delinsTG (BEST1)	XP_005274275.1:n.985+22_985+23delinsTG
XM_005274219.2:c.867+1767_867+1768delinsTG (BEST1)	XP_005274276.1:n.867+1767_867+1768delinsTG
XM_005274221.2:c.715-2190_715-2189delinsTG (BEST1)	XP_005274278.1:n.715-2190_715-2189delinsTG
XM_011545229.1:c.1100+22_1100+23delinsTG (BEST1)	XP_011543531.1:n.1100+22_1100+23delinsTG
XM_011545230.1:c.1007+22_1007+23delinsTG (BEST1)	XP_011543532.1:n.1007+22_1007+23delinsTG
XM_011545231.1:c.782+22_782+23delinsTG (BEST1)	XP_011543533.1:n.782+22_782+23delinsTG
XM_011545232.1:c.1303+22_1303+23delinsTG (BEST1)	XP_011543534.1:n.1303+22_1303+23delinsTG
XM_011545233.1:c.257+22_257+23delinsTG (BEST1)	XP_011543535.1:n.257+22_257+23delinsTG
NM_001363591.1:c.782+22_782+23delinsTG (BEST1)	NP_001350520.1:n.782+22_782+23delinsTG
NM_001363592.1:c.1303+22_1303+23delinsTG (BEST1)	NP_001350521.1:n.1303+22_1303+23delinsTG
NM_001363593.1:c.128+22_128+23delinsTG (BEST1)	NP_001350522.1:n.128+22_128+23delinsTG
NR_134580.1:n.1883+22_1883+23delinsTG (BEST1)
XM_005274210.4:c.1100+22_1100+23delinsTG (BEST1)	XP_005274267.1:n.1100+22_1100+23delinsTG
XM_005274215.4:c.782+22_782+23delinsTG (BEST1)	XP_005274272.1:n.782+22_782+23delinsTG
XM_005274216.4:c.1123+22_1123+23delinsTG (BEST1)	XP_005274273.1:n.1123+22_1123+23delinsTG
XM_005274219.4:c.867+1767_867+1768delinsTG (BEST1)	XP_005274276.1:n.867+1767_867+1768delinsTG
XM_005274221.4:c.715-2190_715-2189delinsTG (BEST1)	XP_005274278.1:n.715-2190_715-2189delinsTG
XM_011545229.3:c.1100+22_1100+23delinsTG (BEST1)	XP_011543531.1:n.1100+22_1100+23delinsTG
XM_011545230.3:c.1007+22_1007+23delinsTG (BEST1)	XP_011543532.1:n.1007+22_1007+23delinsTG
XM_011545233.3:c.257+22_257+23delinsTG (BEST1)	XP_011543535.1:n.257+22_257+23delinsTG
XM_017018230.2:c.985+22_985+23delinsTG (BEST1)	XP_016873719.1:n.985+22_985+23delinsTG
XR_001747952.2:n.1801+22_1801+23delinsTG (BEST1)
XR_001747953.2:n.1557+1767_1557+1768delinsTG (BEST1)
XR_001747954.2:n.1405-2190_1405-2189delinsTG (BEST1)
NM_004183.4:c.1100+22_1100+23delinsTG (BEST1) MANE Select	NP_004174.1:n.1100+22_1100+23delinsTG
NM_001139443.2:c.920+22_920+23delinsTG (BEST1)	NP_001132915.1:n.920+22_920+23delinsTG
NM_001300786.2:c.839+22_839+23delinsTG (BEST1)	NP_001287715.1:n.839+22_839+23delinsTG
NM_001300787.2:c.920+22_920+23delinsTG (BEST1)	NP_001287716.1:n.920+22_920+23delinsTG
NM_001363591.2:c.782+22_782+23delinsTG (BEST1)	NP_001350520.1:n.782+22_782+23delinsTG
NM_001363593.2:c.128+22_128+23delinsTG (BEST1)	NP_001350522.1:n.128+22_128+23delinsTG
NR_134580.2:n.1416+22_1416+23delinsTG (BEST1)