Canonical Allele Identifier: CA678992664

Gene: BEST1

Linked Data

• dbSNP Id: rs1317075292
• gnomAD v3: 11-61957982-A-AAACAAAC
• gnomAD v4: 11-61957982-A-AAACAAAC
• MyVariant Identifiers: chr11:g.61725454_61725455insAACAAAC (hg19) ; chr11:g.61957982_61957983insAACAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61957985_61957991dup , CM000673.2:g.61957985_61957991dup	GRCh38
NC_000011.9:g.61725457_61725463dup , CM000673.1:g.61725457_61725463dup	GRCh37
NC_000011.8:g.61482033_61482039dup	NCBI36
NG_009033.1:g.13102_13108dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.715-161_715-155dup MANE Select	ENSP00000367282.4:n.715-161_715-155dup
ENST00000378043.8:c.715-161_715-155dup	ENSP00000367282.4:n.715-161_715-155dup
ENST00000449131.6:c.535-161_535-155dup	ENSP00000399709.2:n.535-161_535-155dup
ENST00000524877.5:n.1147-161_1147-155dup
ENST00000524926.5:c.715-161_715-155dup	ENSP00000432681.1:n.715-161_715-155dup
ENST00000526988.1:c.397-161_397-155dup	ENSP00000433195.1:n.397-161_397-155dup
ENST00000529265.5:n.638-161_638-155dup
ENST00000534553.5:c.163+2034_163+2040dup	ENSP00000431189.1:n.163+2034_163+2040dup
NM_001139443.1:c.535-161_535-155dup	NP_001132915.1:n.535-161_535-155dup
NM_001300786.1:c.535-161_535-155dup	NP_001287715.1:n.535-161_535-155dup
NM_001300787.1:c.535-161_535-155dup	NP_001287716.1:n.535-161_535-155dup
NM_004183.3:c.715-161_715-155dup	NP_004174.1:n.715-161_715-155dup
XM_005274210.2:c.715-161_715-155dup	XP_005274267.1:n.715-161_715-155dup
XM_005274215.2:c.397-161_397-155dup	XP_005274272.1:n.397-161_397-155dup
XM_005274216.2:c.535-161_535-155dup	XP_005274273.1:n.535-161_535-155dup
XM_005274218.3:c.397-161_397-155dup	XP_005274275.1:n.397-161_397-155dup
XM_005274219.2:c.715-161_715-155dup	XP_005274276.1:n.715-161_715-155dup
XM_005274221.2:c.714+521_714+527dup	XP_005274278.1:n.714+521_714+527dup
XM_011545229.1:c.715-161_715-155dup	XP_011543531.1:n.715-161_715-155dup
XM_011545230.1:c.622-161_622-155dup	XP_011543532.1:n.622-161_622-155dup
XM_011545231.1:c.397-161_397-155dup	XP_011543533.1:n.397-161_397-155dup
XM_011545232.1:c.715-161_715-155dup	XP_011543534.1:n.715-161_715-155dup
NM_001363591.1:c.397-161_397-155dup	NP_001350520.1:n.397-161_397-155dup
NM_001363592.1:c.715-161_715-155dup	NP_001350521.1:n.715-161_715-155dup
NM_001363593.1:c.-461-161_-461-155dup	NP_001350522.1:n.-461-161_-461-155dup
NR_134580.1:n.1295-161_1295-155dup
XM_005274210.4:c.715-161_715-155dup	XP_005274267.1:n.715-161_715-155dup
XM_005274215.4:c.397-161_397-155dup	XP_005274272.1:n.397-161_397-155dup
XM_005274216.4:c.535-161_535-155dup	XP_005274273.1:n.535-161_535-155dup
XM_005274219.4:c.715-161_715-155dup	XP_005274276.1:n.715-161_715-155dup
XM_005274221.4:c.714+521_714+527dup	XP_005274278.1:n.714+521_714+527dup
XM_011545229.3:c.715-161_715-155dup	XP_011543531.1:n.715-161_715-155dup
XM_011545230.3:c.622-161_622-155dup	XP_011543532.1:n.622-161_622-155dup
XM_017018230.2:c.397-161_397-155dup	XP_016873719.1:n.397-161_397-155dup
XR_001747952.2:n.1213-161_1213-155dup
XR_001747953.2:n.1405-161_1405-155dup
XR_001747954.2:n.1404+521_1404+527dup
XR_001748245.1:n.740_746dup
XR_002957249.1:n.505+235_505+241dup
NM_004183.4:c.715-161_715-155dup MANE Select	NP_004174.1:n.715-161_715-155dup
NM_001139443.2:c.535-161_535-155dup	NP_001132915.1:n.535-161_535-155dup
NM_001300786.2:c.535-161_535-155dup	NP_001287715.1:n.535-161_535-155dup
NM_001300787.2:c.535-161_535-155dup	NP_001287716.1:n.535-161_535-155dup
NM_001363591.2:c.397-161_397-155dup	NP_001350520.1:n.397-161_397-155dup
NM_001363593.2:c.-461-161_-461-155dup	NP_001350522.1:n.-461-161_-461-155dup
NR_134580.2:n.828-161_828-155dup