Canonical Allele Identifier: CA179810

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61958134_61958142dup , CM000673.2:g.61958134_61958142dup	GRCh38
NC_000011.9:g.61725606_61725614dup , CM000673.1:g.61725606_61725614dup	GRCh37
NC_000011.8:g.61482182_61482190dup	NCBI36
NG_009033.1:g.13251_13259dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004183.4:c.715-12_715-4dup MANE Select	NP_004174.1:n.715-12_715-4dup
ENST00000378043.9:c.715-12_715-4dup MANE Select	ENSP00000367282.4:n.715-12_715-4dup
NM_001139443.1:c.535-12_535-4dup	NP_001132915.1:n.535-12_535-4dup
NM_001139443.2:c.535-12_535-4dup	NP_001132915.1:n.535-12_535-4dup
NM_001300786.1:c.535-12_535-4dup	NP_001287715.1:n.535-12_535-4dup
NM_001300786.2:c.535-12_535-4dup	NP_001287715.1:n.535-12_535-4dup
NM_001300787.1:c.535-12_535-4dup	NP_001287716.1:n.535-12_535-4dup
NM_001300787.2:c.535-12_535-4dup	NP_001287716.1:n.535-12_535-4dup
NM_001363591.1:c.397-12_397-4dup	NP_001350520.1:n.397-12_397-4dup
NM_001363591.2:c.397-12_397-4dup	NP_001350520.1:n.397-12_397-4dup
NM_001363592.1:c.715-12_715-4dup	NP_001350521.1:n.715-12_715-4dup
NM_001363593.1:c.-461-12_-461-4dup	NP_001350522.1:n.-461-12_-461-4dup
NM_001363593.2:c.-461-12_-461-4dup	NP_001350522.1:n.-461-12_-461-4dup
NM_004183.3:c.715-12_715-4dup	NP_004174.1:n.715-12_715-4dup
NR_134580.1:n.1295-12_1295-4dup
NR_134580.2:n.828-12_828-4dup
ENST00000378043.8:c.715-12_715-4dup	ENSP00000367282.4:n.715-12_715-4dup
ENST00000449131.6:c.535-12_535-4dup	ENSP00000399709.2:n.535-12_535-4dup
ENST00000524877.5:n.1147-12_1147-4dup
ENST00000524926.5:c.715-12_715-4dup	ENSP00000432681.1:n.715-12_715-4dup
ENST00000526988.1:c.397-12_397-4dup	ENSP00000433195.1:n.397-12_397-4dup
ENST00000529265.5:n.638-12_638-4dup
ENST00000534553.5:c.163+2183_163+2191dup	ENSP00000431189.1:n.163+2183_163+2191dup
XM_005274210.2:c.715-12_715-4dup	XP_005274267.1:n.715-12_715-4dup
XM_005274210.4:c.715-12_715-4dup	XP_005274267.1:n.715-12_715-4dup
XM_005274215.2:c.397-12_397-4dup	XP_005274272.1:n.397-12_397-4dup
XM_005274215.4:c.397-12_397-4dup	XP_005274272.1:n.397-12_397-4dup
XM_005274216.2:c.535-12_535-4dup	XP_005274273.1:n.535-12_535-4dup
XM_005274216.4:c.535-12_535-4dup	XP_005274273.1:n.535-12_535-4dup
XM_005274218.3:c.397-12_397-4dup	XP_005274275.1:n.397-12_397-4dup
XM_005274219.2:c.715-12_715-4dup	XP_005274276.1:n.715-12_715-4dup
XM_005274219.4:c.715-12_715-4dup	XP_005274276.1:n.715-12_715-4dup
XM_005274221.2:c.714+670_714+678dup	XP_005274278.1:n.714+670_714+678dup
XM_005274221.4:c.714+670_714+678dup	XP_005274278.1:n.714+670_714+678dup
XM_011545229.1:c.715-12_715-4dup	XP_011543531.1:n.715-12_715-4dup
XM_011545229.3:c.715-12_715-4dup	XP_011543531.1:n.715-12_715-4dup
XM_011545230.1:c.622-12_622-4dup	XP_011543532.1:n.622-12_622-4dup
XM_011545230.3:c.622-12_622-4dup	XP_011543532.1:n.622-12_622-4dup
XM_011545231.1:c.397-12_397-4dup	XP_011543533.1:n.397-12_397-4dup
XM_011545232.1:c.715-12_715-4dup	XP_011543534.1:n.715-12_715-4dup
XM_017018230.2:c.397-12_397-4dup	XP_016873719.1:n.397-12_397-4dup
XR_001747952.2:n.1213-12_1213-4dup
XR_001747953.2:n.1405-12_1405-4dup
XR_001747954.2:n.1404+670_1404+678dup
XR_001748245.1:n.593_601dup
XR_002957249.1:n.505+88_505+96dup