Canonical Allele Identifier: CA2792335350

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957544_61957546del , CM000673.2:g.61957544_61957546del	GRCh38
NC_000011.9:g.61725016_61725018del , CM000673.1:g.61725016_61725018del	GRCh37
NC_000011.8:g.61481592_61481594del	NCBI36
NG_009033.1:g.12661_12663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.714+80_714+82del MANE Select	ENSP00000367282.4:n.714+80_714+82del
ENST00000378043.8:c.714+80_714+82del	ENSP00000367282.4:n.714+80_714+82del
ENST00000449131.6:c.534+80_534+82del	ENSP00000399709.2:n.534+80_534+82del
ENST00000524877.5:n.1146+80_1146+82del
ENST00000524926.5:c.714+80_714+82del	ENSP00000432681.1:n.714+80_714+82del
ENST00000526988.1:c.396+80_396+82del	ENSP00000433195.1:n.396+80_396+82del
ENST00000529265.5:n.637+80_637+82del
ENST00000534553.5:c.163+1593_163+1595del	ENSP00000431189.1:n.163+1593_163+1595del
NM_001139443.1:c.534+80_534+82del	NP_001132915.1:n.534+80_534+82del
NM_001300786.1:c.534+80_534+82del	NP_001287715.1:n.534+80_534+82del
NM_001300787.1:c.534+80_534+82del	NP_001287716.1:n.534+80_534+82del
NM_004183.3:c.714+80_714+82del	NP_004174.1:n.714+80_714+82del
XM_005274210.2:c.714+80_714+82del	XP_005274267.1:n.714+80_714+82del
XM_005274215.2:c.396+80_396+82del	XP_005274272.1:n.396+80_396+82del
XM_005274216.2:c.534+80_534+82del	XP_005274273.1:n.534+80_534+82del
XM_005274218.3:c.396+80_396+82del	XP_005274275.1:n.396+80_396+82del
XM_005274219.2:c.714+80_714+82del	XP_005274276.1:n.714+80_714+82del
XM_005274221.2:c.714+80_714+82del	XP_005274278.1:n.714+80_714+82del
XM_011545229.1:c.714+80_714+82del	XP_011543531.1:n.714+80_714+82del
XM_011545230.1:c.621+80_621+82del	XP_011543532.1:n.621+80_621+82del
XM_011545231.1:c.396+80_396+82del	XP_011543533.1:n.396+80_396+82del
XM_011545232.1:c.714+80_714+82del	XP_011543534.1:n.714+80_714+82del
NM_001363591.1:c.396+80_396+82del	NP_001350520.1:n.396+80_396+82del
NM_001363592.1:c.714+80_714+82del	NP_001350521.1:n.714+80_714+82del
NM_001363593.1:c.-462+80_-462+82del	NP_001350522.1:n.-462+80_-462+82del
NR_134580.1:n.1294+80_1294+82del
XM_005274210.4:c.714+80_714+82del	XP_005274267.1:n.714+80_714+82del
XM_005274215.4:c.396+80_396+82del	XP_005274272.1:n.396+80_396+82del
XM_005274216.4:c.534+80_534+82del	XP_005274273.1:n.534+80_534+82del
XM_005274219.4:c.714+80_714+82del	XP_005274276.1:n.714+80_714+82del
XM_005274221.4:c.714+80_714+82del	XP_005274278.1:n.714+80_714+82del
XM_011545229.3:c.714+80_714+82del	XP_011543531.1:n.714+80_714+82del
XM_011545230.3:c.621+80_621+82del	XP_011543532.1:n.621+80_621+82del
XM_017018230.2:c.396+80_396+82del	XP_016873719.1:n.396+80_396+82del
XR_001747952.2:n.1212+80_1212+82del
XR_001747953.2:n.1404+80_1404+82del
XR_001747954.2:n.1404+80_1404+82del
XR_001748245.1:n.1183_1185del
XR_002957249.1:n.506-314_506-312del
NM_004183.4:c.714+80_714+82del MANE Select	NP_004174.1:n.714+80_714+82del
NM_001139443.2:c.534+80_534+82del	NP_001132915.1:n.534+80_534+82del
NM_001300786.2:c.534+80_534+82del	NP_001287715.1:n.534+80_534+82del
NM_001300787.2:c.534+80_534+82del	NP_001287716.1:n.534+80_534+82del
NM_001363591.2:c.396+80_396+82del	NP_001350520.1:n.396+80_396+82del
NM_001363593.2:c.-462+80_-462+82del	NP_001350522.1:n.-462+80_-462+82del
NR_134580.2:n.827+80_827+82del