Canonical Allele Identifier: CA2565613995
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959527_61959529del , CM000673.2:g.61959527_61959529del GRCh38
NC_000011.9:g.61726999_61727001del , CM000673.1:g.61726999_61727001del GRCh37
NC_000011.8:g.61483575_61483577del NCBI36
NG_009033.1:g.14644_14646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.897_899del MANE Select ENSP00000367282.4:p.Glu300del
ENST00000378043.8:c.897_899del ENSP00000367282.4:p.Glu300del
ENST00000449131.6:c.717_719del ENSP00000399709.2:p.Glu240del
ENST00000524877.5:n.2528_2530del
ENST00000524926.5:c.1100_1102del ENSP00000432681.1:p.Glu367_Arg368delinsGly
ENST00000526988.1:c.782_784del ENSP00000433195.1:p.Glu261_Arg262delinsGly
ENST00000534553.5:c.164-2728_164-2726del ENSP00000431189.1:n.164-2728_164-2726del
NM_001139443.1:c.717_719del NP_001132915.1:p.Glu240del
NM_001300786.1:c.688-365_688-363del NP_001287715.1:n.688-365_688-363del
NM_001300787.1:c.717_719del NP_001287716.1:p.Glu240del
NM_004183.3:c.897_899del NP_004174.1:p.Glu300del
XM_005274210.2:c.897_899del XP_005274267.1:p.Glu300del
XM_005274215.2:c.579_581del XP_005274272.1:p.Glu194del
XM_005274216.2:c.920_922del XP_005274273.1:p.Glu307_Arg308delinsGly
XM_005274218.3:c.782_784del XP_005274275.1:p.Glu261_Arg262delinsGly
XM_005274219.2:c.867+1229_867+1231del XP_005274276.1:n.867+1229_867+1231del
XM_005274221.2:c.714+2063_714+2065del XP_005274278.1:n.714+2063_714+2065del
XM_011545229.1:c.897_899del XP_011543531.1:p.Glu300del
XM_011545230.1:c.804_806del XP_011543532.1:p.Glu269del
XM_011545231.1:c.579_581del XP_011543533.1:p.Glu194del
XM_011545232.1:c.1100_1102del XP_011543534.1:p.Glu367_Arg368delinsGly
XM_011545233.1:c.54_56del XP_011543535.1:p.Glu19del
NM_001363591.1:c.579_581del NP_001350520.1:p.Glu194del
NM_001363592.1:c.1100_1102del NP_001350521.1:p.Glu367_Arg368delinsGly
NM_001363593.1:c.-76_-74del NP_001350522.1:n.-76_-74del
NR_134580.1:n.1680_1682del
XM_005274210.4:c.897_899del XP_005274267.1:p.Glu300del
XM_005274215.4:c.579_581del XP_005274272.1:p.Glu194del
XM_005274216.4:c.920_922del XP_005274273.1:p.Glu307_Arg308delinsGly
XM_005274219.4:c.867+1229_867+1231del XP_005274276.1:n.867+1229_867+1231del
XM_005274221.4:c.714+2063_714+2065del XP_005274278.1:n.714+2063_714+2065del
XM_011545229.3:c.897_899del XP_011543531.1:p.Glu300del
XM_011545230.3:c.804_806del XP_011543532.1:p.Glu269del
XM_011545233.3:c.54_56del XP_011543535.1:p.Glu19del
XM_017018230.2:c.782_784del XP_016873719.1:p.Glu261_Arg262delinsGly
XR_001747952.2:n.1598_1600del
XR_001747953.2:n.1557+1229_1557+1231del
XR_001747954.2:n.1404+2063_1404+2065del
XR_001748245.1:n.196+203_196+205del
XR_002957249.1:n.196+203_196+205del
NM_004183.4:c.897_899del MANE Select NP_004174.1:p.Glu300del
NM_001139443.2:c.717_719del NP_001132915.1:p.Glu240del
NM_001300786.2:c.688-365_688-363del NP_001287715.1:n.688-365_688-363del
NM_001300787.2:c.717_719del NP_001287716.1:p.Glu240del
NM_001363591.2:c.579_581del NP_001350520.1:p.Glu194del
NM_001363593.2:c.-76_-74del NP_001350522.1:n.-76_-74del
NR_134580.2:n.1213_1215del