Canonical Allele Identifier: CA1977533911

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959510_61959513delinsCTCA , CM000673.2:g.61959510_61959513delinsCTCA	GRCh38
NC_000011.9:g.61726982_61726985delinsCTCA , CM000673.1:g.61726982_61726985delinsCTCA	GRCh37
NC_000011.8:g.61483558_61483561delinsCTCA	NCBI36
NG_009033.1:g.14627_14630delinsCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.880_883delinsCTCA MANE Select	ENSP00000367282.4:p.Leu294=
ENST00000378043.8:c.880_883delinsCTCA	ENSP00000367282.4:p.Leu294=
ENST00000449131.6:c.700_703delinsCTCA	ENSP00000399709.2:p.Leu234=
ENST00000524877.5:n.2511_2514delinsCTCA
ENST00000524926.5:c.1083_1086delinsCTCA	ENSP00000432681.1:p.Ser361=
ENST00000526988.1:c.765_768delinsCTCA	ENSP00000433195.1:p.Ser255=
ENST00000534553.5:c.164-2745_164-2742delinsCTCA	ENSP00000431189.1:n.164-2745_164-2742deli...
NM_001139443.1:c.700_703delinsCTCA	NP_001132915.1:p.Leu234=
NM_001300786.1:c.688-382_688-379delinsCTCA	NP_001287715.1:n.688-382_688-379delinsCTC...
NM_001300787.1:c.700_703delinsCTCA	NP_001287716.1:p.Leu234=
NM_004183.3:c.880_883delinsCTCA	NP_004174.1:p.Leu294=
XM_005274210.2:c.880_883delinsCTCA	XP_005274267.1:p.Leu294=
XM_005274215.2:c.562_565delinsCTCA	XP_005274272.1:p.Leu188=
XM_005274216.2:c.903_906delinsCTCA	XP_005274273.1:p.Ser301=
XM_005274218.3:c.765_768delinsCTCA	XP_005274275.1:p.Ser255=
XM_005274219.2:c.867+1212_867+1215delinsCTCA	XP_005274276.1:n.867+1212_867+1215delinsC...
XM_005274221.2:c.714+2046_714+2049delinsCTCA	XP_005274278.1:n.714+2046_714+2049delinsC...
XM_011545229.1:c.880_883delinsCTCA	XP_011543531.1:p.Leu294=
XM_011545230.1:c.787_790delinsCTCA	XP_011543532.1:p.Leu263=
XM_011545231.1:c.562_565delinsCTCA	XP_011543533.1:p.Leu188=
XM_011545232.1:c.1083_1086delinsCTCA	XP_011543534.1:p.Ser361=
XM_011545233.1:c.37_40delinsCTCA	XP_011543535.1:p.Leu13=
NM_001363591.1:c.562_565delinsCTCA	NP_001350520.1:p.Leu188=
NM_001363592.1:c.1083_1086delinsCTCA	NP_001350521.1:p.Ser361=
NM_001363593.1:c.-93_-90delinsCTCA	NP_001350522.1:n.-93_-90delinsCTCA
NR_134580.1:n.1663_1666delinsCTCA
XM_005274210.4:c.880_883delinsCTCA	XP_005274267.1:p.Leu294=
XM_005274215.4:c.562_565delinsCTCA	XP_005274272.1:p.Leu188=
XM_005274216.4:c.903_906delinsCTCA	XP_005274273.1:p.Ser301=
XM_005274219.4:c.867+1212_867+1215delinsCTCA	XP_005274276.1:n.867+1212_867+1215delinsC...
XM_005274221.4:c.714+2046_714+2049delinsCTCA	XP_005274278.1:n.714+2046_714+2049delinsC...
XM_011545229.3:c.880_883delinsCTCA	XP_011543531.1:p.Leu294=
XM_011545230.3:c.787_790delinsCTCA	XP_011543532.1:p.Leu263=
XM_011545233.3:c.37_40delinsCTCA	XP_011543535.1:p.Leu13=
XM_017018230.2:c.765_768delinsCTCA	XP_016873719.1:p.Ser255=
XR_001747952.2:n.1581_1584delinsCTCA
XR_001747953.2:n.1557+1212_1557+1215delinsCTCA
XR_001747954.2:n.1404+2046_1404+2049delinsCTCA
XR_001748245.1:n.196+219_196+222delinsTGAG
XR_002957249.1:n.196+219_196+222delinsTGAG
NM_004183.4:c.880_883delinsCTCA MANE Select	NP_004174.1:p.Leu294=
NM_001139443.2:c.700_703delinsCTCA	NP_001132915.1:p.Leu234=
NM_001300786.2:c.688-382_688-379delinsCTCA	NP_001287715.1:n.688-382_688-379delinsCTC...
NM_001300787.2:c.700_703delinsCTCA	NP_001287716.1:p.Leu234=
NM_001363591.2:c.562_565delinsCTCA	NP_001350520.1:p.Leu188=
NM_001363593.2:c.-93_-90delinsCTCA	NP_001350522.1:n.-93_-90delinsCTCA
NR_134580.2:n.1196_1199delinsCTCA