Canonical Allele Identifier: CA2574845831

Gene: BEST1

Linked Data

• ClinVar Variation Id: 3041762
• ClinVar RCV Id: RCV003932108
• gnomAD v4: 11-61955084-T-TCCACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955100_61955105dup , CM000673.2:g.61955100_61955105dup	GRCh38
NC_000011.9:g.61722572_61722577dup , CM000673.1:g.61722572_61722577dup	GRCh37
NC_000011.8:g.61479148_61479153dup	NCBI36
NG_009033.1:g.10217_10222dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.153-7_153-2dup MANE Select	ENSP00000367282.4:n.153-7_153-2dup
ENST00000378043.8:c.153-7_153-2dup	ENSP00000367282.4:n.153-7_153-2dup
ENST00000449131.6:c.-28-7_-28-2dup	ENSP00000399709.2:n.-28-7_-28-2dup
ENST00000524877.5:n.69-7_69-2dup
ENST00000524926.5:c.153-7_153-2dup	ENSP00000432681.1:n.153-7_153-2dup
ENST00000529265.5:n.76-7_76-2dup
ENST00000533521.5:n.261-7_261-2dup
ENST00000534553.5:c.-211-7_-211-2dup	ENSP00000431189.1:n.-211-7_-211-2dup
NM_001139443.1:c.-28-7_-28-2dup	NP_001132915.1:n.-28-7_-28-2dup
NM_001300786.1:c.-28-7_-28-2dup	NP_001287715.1:n.-28-7_-28-2dup
NM_001300787.1:c.-28-7_-28-2dup	NP_001287716.1:n.-28-7_-28-2dup
NM_004183.3:c.153-7_153-2dup	NP_004174.1:n.153-7_153-2dup
XM_005274210.2:c.153-7_153-2dup	XP_005274267.1:n.153-7_153-2dup
XM_005274216.2:c.-28-7_-28-2dup	XP_005274273.1:n.-28-7_-28-2dup
XM_005274218.3:c.-211-7_-211-2dup	XP_005274275.1:n.-211-7_-211-2dup
XM_005274219.2:c.153-7_153-2dup	XP_005274276.1:n.153-7_153-2dup
XM_005274221.2:c.153-7_153-2dup	XP_005274278.1:n.153-7_153-2dup
XM_011545229.1:c.153-7_153-2dup	XP_011543531.1:n.153-7_153-2dup
XM_011545230.1:c.60-7_60-2dup	XP_011543532.1:n.60-7_60-2dup
XM_011545231.1:c.-211-7_-211-2dup	XP_011543533.1:n.-211-7_-211-2dup
XM_011545232.1:c.153-7_153-2dup	XP_011543534.1:n.153-7_153-2dup
NM_001363591.1:c.-359_-354dup	NP_001350520.1:n.-359_-354dup
NM_001363592.1:c.153-7_153-2dup	NP_001350521.1:n.153-7_153-2dup
NM_001363593.1:c.-1216_-1211dup	NP_001350522.1:n.-1216_-1211dup
NR_134580.1:n.733-7_733-2dup
XM_005274210.4:c.153-7_153-2dup	XP_005274267.1:n.153-7_153-2dup
XM_005274215.4:c.-359_-354dup	XP_005274272.1:n.-359_-354dup
XM_005274216.4:c.-28-7_-28-2dup	XP_005274273.1:n.-28-7_-28-2dup
XM_005274219.4:c.153-7_153-2dup	XP_005274276.1:n.153-7_153-2dup
XM_005274221.4:c.153-7_153-2dup	XP_005274278.1:n.153-7_153-2dup
XM_011545229.3:c.153-7_153-2dup	XP_011543531.1:n.153-7_153-2dup
XM_011545230.3:c.60-7_60-2dup	XP_011543532.1:n.60-7_60-2dup
XM_017018230.2:c.-359_-354dup	XP_016873719.1:n.-359_-354dup
XR_001747952.2:n.651-7_651-2dup
XR_001747953.2:n.843-7_843-2dup
XR_001747954.2:n.843-7_843-2dup
XR_002957249.1:n.2648_2653dup
NM_004183.4:c.153-7_153-2dup MANE Select	NP_004174.1:n.153-7_153-2dup
NM_001139443.2:c.-28-7_-28-2dup	NP_001132915.1:n.-28-7_-28-2dup
NM_001300786.2:c.-28-7_-28-2dup	NP_001287715.1:n.-28-7_-28-2dup
NM_001300787.2:c.-28-7_-28-2dup	NP_001287716.1:n.-28-7_-28-2dup
NR_134580.2:n.266-7_266-2dup