Canonical Allele Identifier: CA6040701

Gene: BEST1

Linked Data

• dbSNP Id: rs778367000
• ExAC: 11:61722576 C / CA
• gnomAD v2: 11-61722576-C-CA
• MyVariant Identifiers: chr11:g.61722578_61722583delinsAGGCTGG (hg19) ; chr11:g.61722576_61722577insA (hg19) ; chr11:g.61955104_61955105insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955105dup , CM000673.2:g.61955105dup	GRCh38
NC_000011.9:g.61722577dup , CM000673.1:g.61722577dup	GRCh37
NC_000011.8:g.61479153dup	NCBI36
NG_009033.1:g.10222dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.153-2dup MANE Select	ENSP00000367282.4:n.153-2dup
ENST00000378043.8:c.153-2dup	ENSP00000367282.4:n.153-2dup
ENST00000449131.6:c.-28-2dup	ENSP00000399709.2:n.-28-2dup
ENST00000524877.5:n.69-2dup
ENST00000524926.5:c.153-2dup	ENSP00000432681.1:n.153-2dup
ENST00000529265.5:n.76-2dup
ENST00000533521.5:n.261-2dup
ENST00000534553.5:c.-211-2dup	ENSP00000431189.1:n.-211-2dup
NM_001139443.1:c.-28-2dup	NP_001132915.1:n.-28-2dup
NM_001300786.1:c.-28-2dup	NP_001287715.1:n.-28-2dup
NM_001300787.1:c.-28-2dup	NP_001287716.1:n.-28-2dup
NM_004183.3:c.153-2dup	NP_004174.1:n.153-2dup
XM_005274210.2:c.153-2dup	XP_005274267.1:n.153-2dup
XM_005274216.2:c.-28-2dup	XP_005274273.1:n.-28-2dup
XM_005274218.3:c.-211-2dup	XP_005274275.1:n.-211-2dup
XM_005274219.2:c.153-2dup	XP_005274276.1:n.153-2dup
XM_005274221.2:c.153-2dup	XP_005274278.1:n.153-2dup
XM_011545229.1:c.153-2dup	XP_011543531.1:n.153-2dup
XM_011545230.1:c.60-2dup	XP_011543532.1:n.60-2dup
XM_011545231.1:c.-211-2dup	XP_011543533.1:n.-211-2dup
XM_011545232.1:c.153-2dup	XP_011543534.1:n.153-2dup
NM_001363591.1:c.-354dup	NP_001350520.1:n.-354dup
NM_001363592.1:c.153-2dup	NP_001350521.1:n.153-2dup
NM_001363593.1:c.-1211dup	NP_001350522.1:n.-1211dup
NR_134580.1:n.733-2dup
XM_005274210.4:c.153-2dup	XP_005274267.1:n.153-2dup
XM_005274215.4:c.-354dup	XP_005274272.1:n.-354dup
XM_005274216.4:c.-28-2dup	XP_005274273.1:n.-28-2dup
XM_005274219.4:c.153-2dup	XP_005274276.1:n.153-2dup
XM_005274221.4:c.153-2dup	XP_005274278.1:n.153-2dup
XM_011545229.3:c.153-2dup	XP_011543531.1:n.153-2dup
XM_011545230.3:c.60-2dup	XP_011543532.1:n.60-2dup
XM_017018230.2:c.-354dup	XP_016873719.1:n.-354dup
XR_001747952.2:n.651-2dup
XR_001747953.2:n.843-2dup
XR_001747954.2:n.843-2dup
XR_002957249.1:n.2633dup
NM_004183.4:c.153-2dup MANE Select	NP_004174.1:n.153-2dup
NM_001139443.2:c.-28-2dup	NP_001132915.1:n.-28-2dup
NM_001300786.2:c.-28-2dup	NP_001287715.1:n.-28-2dup
NM_001300787.2:c.-28-2dup	NP_001287716.1:n.-28-2dup
NR_134580.2:n.266-2dup