Canonical Allele Identifier: CA915948855

Gene: BEST1

Linked Data

• ClinVar Variation Id: 829895
• ClinVar RCV Id: RCV001029842
• dbSNP Id: rs1591284563

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955894_61955896dup , CM000673.2:g.61955894_61955896dup	GRCh38
NC_000011.9:g.61723366_61723368dup , CM000673.1:g.61723366_61723368dup	GRCh37
NC_000011.8:g.61479942_61479944dup	NCBI36
NG_009033.1:g.11011_11013dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.424_426dup MANE Select	ENSP00000367282.4:p.Ser142_Val143insSer
ENST00000378043.8:c.424_426dup	ENSP00000367282.4:p.Ser142_Val143insSer
ENST00000449131.6:c.244_246dup	ENSP00000399709.2:p.Ser82_Val83insSer
ENST00000524877.5:n.856_858dup
ENST00000524926.5:c.424_426dup	ENSP00000432681.1:p.Ser142_Val143insSer
ENST00000526988.1:c.106_108dup	ENSP00000433195.1:p.Ser36_Val37insSer
ENST00000529265.5:n.347_349dup
ENST00000533521.5:n.1048_1050dup
ENST00000534553.5:c.106_108dup	ENSP00000431189.1:p.Ser36_Val37insSer
NM_001139443.1:c.244_246dup	NP_001132915.1:p.Ser82_Val83insSer
NM_001300786.1:c.244_246dup	NP_001287715.1:p.Ser82_Val83insSer
NM_001300787.1:c.244_246dup	NP_001287716.1:p.Ser82_Val83insSer
NM_004183.3:c.424_426dup	NP_004174.1:p.Ser142_Val143insSer
XM_005274210.2:c.424_426dup	XP_005274267.1:p.Ser142_Val143insSer
XM_005274215.2:c.106_108dup	XP_005274272.1:p.Ser36_Val37insSer
XM_005274216.2:c.244_246dup	XP_005274273.1:p.Ser82_Val83insSer
XM_005274218.3:c.106_108dup	XP_005274275.1:p.Ser36_Val37insSer
XM_005274219.2:c.424_426dup	XP_005274276.1:p.Ser142_Val143insSer
XM_005274221.2:c.424_426dup	XP_005274278.1:p.Ser142_Val143insSer
XM_011545229.1:c.424_426dup	XP_011543531.1:p.Ser142_Val143insSer
XM_011545230.1:c.331_333dup	XP_011543532.1:p.Ser111_Val112insSer
XM_011545231.1:c.106_108dup	XP_011543533.1:p.Ser36_Val37insSer
XM_011545232.1:c.424_426dup	XP_011543534.1:p.Ser142_Val143insSer
NM_001363591.1:c.106_108dup	NP_001350520.1:p.Ser36_Val37insSer
NM_001363592.1:c.424_426dup	NP_001350521.1:p.Ser142_Val143insSer
NM_001363593.1:c.-752_-750dup	NP_001350522.1:n.-752_-750dup
NR_134580.1:n.1004_1006dup
XM_005274210.4:c.424_426dup	XP_005274267.1:p.Ser142_Val143insSer
XM_005274215.4:c.106_108dup	XP_005274272.1:p.Ser36_Val37insSer
XM_005274216.4:c.244_246dup	XP_005274273.1:p.Ser82_Val83insSer
XM_005274219.4:c.424_426dup	XP_005274276.1:p.Ser142_Val143insSer
XM_005274221.4:c.424_426dup	XP_005274278.1:p.Ser142_Val143insSer
XM_011545229.3:c.424_426dup	XP_011543531.1:p.Ser142_Val143insSer
XM_011545230.3:c.331_333dup	XP_011543532.1:p.Ser111_Val112insSer
XM_017018230.2:c.106_108dup	XP_016873719.1:p.Ser36_Val37insSer
XR_001747952.2:n.922_924dup
XR_001747953.2:n.1114_1116dup
XR_001747954.2:n.1114_1116dup
XR_002957249.1:n.1844_1846dup
NM_004183.4:c.424_426dup MANE Select	NP_004174.1:p.Ser142_Val143insSer
NM_001139443.2:c.244_246dup	NP_001132915.1:p.Ser82_Val83insSer
NM_001300786.2:c.244_246dup	NP_001287715.1:p.Ser82_Val83insSer
NM_001300787.2:c.244_246dup	NP_001287716.1:p.Ser82_Val83insSer
NM_001363591.2:c.106_108dup	NP_001350520.1:p.Ser36_Val37insSer
NM_001363593.2:c.-752_-750dup	NP_001350522.1:n.-752_-750dup
NR_134580.2:n.537_539dup