Canonical Allele Identifier: CA2792335811
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959679_61959680insCACCAACCCCCCAAACACACCCAACAC , CM000673.2:g.61959679_61959680insCACCAACCCCCCAAACACACCCAACAC GRCh38
NC_000011.9:g.61727151_61727152insCACCAACCCCCCAAACACACCCAACAC , CM000673.1:g.61727151_61727152insCACCAACCCCCCAAACACACCCAACAC GRCh37
NC_000011.8:g.61483727_61483728insCACCAACCCCCCAAACACACCCAACAC NCBI36
NG_009033.1:g.14796_14797insCACCAACCCCCCAAACACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC MANE Select ENSP00000367282.4:n.948+101_948+102insCACCAACCCCCCAAACACACCCA...
ENST00000378043.8:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC ENSP00000367282.4:n.948+101_948+102insCACCAACCCCCCAAACACACCCA...
ENST00000449131.6:c.768+101_768+102insCACCAACCCCCCAAACACACCCAACAC ENSP00000399709.2:n.768+101_768+102insCACCAACCCCCCAAACACACCCA...
ENST00000524877.5:n.2579+101_2579+102insCACCAACCCCCCAAACACACCCAACAC
ENST00000524926.5:c.1151+101_1151+102insCACCAACCCCCCAAACACACCCAACAC ENSP00000432681.1:n.1151+101_1151+102insCACCAACCCCCCAAACACACC...
ENST00000526988.1:c.833+101_833+102insCACCAACCCCCCAAACACACCCAACAC ENSP00000433195.1:n.833+101_833+102insCACCAACCCCCCAAACACACCCA...
ENST00000534553.5:c.164-2576_164-2575insCACCAACCCCCCAAACACACCCAACAC ENSP00000431189.1:n.164-2576_164-2575insCACCAACCCCCCAAACACACC...
NM_001139443.1:c.768+101_768+102insCACCAACCCCCCAAACACACCCAACAC NP_001132915.1:n.768+101_768+102insCACCAACCCCCCAAACACACCCAACA...
NM_001300786.1:c.688-213_688-212insCACCAACCCCCCAAACACACCCAACAC NP_001287715.1:n.688-213_688-212insCACCAACCCCCCAAACACACCCAACA...
NM_001300787.1:c.768+101_768+102insCACCAACCCCCCAAACACACCCAACAC NP_001287716.1:n.768+101_768+102insCACCAACCCCCCAAACACACCCAACA...
NM_004183.3:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC NP_004174.1:n.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC
XM_005274210.2:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC XP_005274267.1:n.948+101_948+102insCACCAACCCCCCAAACACACCCAACA...
XM_005274215.2:c.630+101_630+102insCACCAACCCCCCAAACACACCCAACAC XP_005274272.1:n.630+101_630+102insCACCAACCCCCCAAACACACCCAACA...
XM_005274216.2:c.971+101_971+102insCACCAACCCCCCAAACACACCCAACAC XP_005274273.1:n.971+101_971+102insCACCAACCCCCCAAACACACCCAACA...
XM_005274218.3:c.833+101_833+102insCACCAACCCCCCAAACACACCCAACAC XP_005274275.1:n.833+101_833+102insCACCAACCCCCCAAACACACCCAACA...
XM_005274219.2:c.867+1381_867+1382insCACCAACCCCCCAAACACACCCAACAC XP_005274276.1:n.867+1381_867+1382insCACCAACCCCCCAAACACACCCAA...
XM_005274221.2:c.714+2215_714+2216insCACCAACCCCCCAAACACACCCAACAC XP_005274278.1:n.714+2215_714+2216insCACCAACCCCCCAAACACACCCAA...
XM_011545229.1:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC XP_011543531.1:n.948+101_948+102insCACCAACCCCCCAAACACACCCAACA...
XM_011545230.1:c.855+101_855+102insCACCAACCCCCCAAACACACCCAACAC XP_011543532.1:n.855+101_855+102insCACCAACCCCCCAAACACACCCAACA...
XM_011545231.1:c.630+101_630+102insCACCAACCCCCCAAACACACCCAACAC XP_011543533.1:n.630+101_630+102insCACCAACCCCCCAAACACACCCAACA...
XM_011545232.1:c.1151+101_1151+102insCACCAACCCCCCAAACACACCCAACAC XP_011543534.1:n.1151+101_1151+102insCACCAACCCCCCAAACACACCCAA...
XM_011545233.1:c.105+101_105+102insCACCAACCCCCCAAACACACCCAACAC XP_011543535.1:n.105+101_105+102insCACCAACCCCCCAAACACACCCAACA...
NM_001363591.1:c.630+101_630+102insCACCAACCCCCCAAACACACCCAACAC NP_001350520.1:n.630+101_630+102insCACCAACCCCCCAAACACACCCAACA...
NM_001363592.1:c.1151+101_1151+102insCACCAACCCCCCAAACACACCCAACAC NP_001350521.1:n.1151+101_1151+102insCACCAACCCCCCAAACACACCCAA...
NM_001363593.1:c.-25+101_-25+102insCACCAACCCCCCAAACACACCCAACAC NP_001350522.1:n.-25+101_-25+102insCACCAACCCCCCAAACACACCCAACA...
NR_134580.1:n.1731+101_1731+102insCACCAACCCCCCAAACACACCCAACAC
XM_005274210.4:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC XP_005274267.1:n.948+101_948+102insCACCAACCCCCCAAACACACCCAACA...
XM_005274215.4:c.630+101_630+102insCACCAACCCCCCAAACACACCCAACAC XP_005274272.1:n.630+101_630+102insCACCAACCCCCCAAACACACCCAACA...
XM_005274216.4:c.971+101_971+102insCACCAACCCCCCAAACACACCCAACAC XP_005274273.1:n.971+101_971+102insCACCAACCCCCCAAACACACCCAACA...
XM_005274219.4:c.867+1381_867+1382insCACCAACCCCCCAAACACACCCAACAC XP_005274276.1:n.867+1381_867+1382insCACCAACCCCCCAAACACACCCAA...
XM_005274221.4:c.714+2215_714+2216insCACCAACCCCCCAAACACACCCAACAC XP_005274278.1:n.714+2215_714+2216insCACCAACCCCCCAAACACACCCAA...
XM_011545229.3:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC XP_011543531.1:n.948+101_948+102insCACCAACCCCCCAAACACACCCAACA...
XM_011545230.3:c.855+101_855+102insCACCAACCCCCCAAACACACCCAACAC XP_011543532.1:n.855+101_855+102insCACCAACCCCCCAAACACACCCAACA...
XM_011545233.3:c.105+101_105+102insCACCAACCCCCCAAACACACCCAACAC XP_011543535.1:n.105+101_105+102insCACCAACCCCCCAAACACACCCAACA...
XM_017018230.2:c.833+101_833+102insCACCAACCCCCCAAACACACCCAACAC XP_016873719.1:n.833+101_833+102insCACCAACCCCCCAAACACACCCAACA...
XR_001747952.2:n.1649+101_1649+102insCACCAACCCCCCAAACACACCCAACAC
XR_001747953.2:n.1557+1381_1557+1382insCACCAACCCCCCAAACACACCCAACAC
XR_001747954.2:n.1404+2215_1404+2216insCACCAACCCCCCAAACACACCCAACAC
XR_001748245.1:n.196+52_196+53insGTGTTGGGTGTGTTTGGGGGGTTGGTG
XR_002957249.1:n.196+52_196+53insGTGTTGGGTGTGTTTGGGGGGTTGGTG
NM_004183.4:c.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC MANE Select NP_004174.1:n.948+101_948+102insCACCAACCCCCCAAACACACCCAACAC
NM_001139443.2:c.768+101_768+102insCACCAACCCCCCAAACACACCCAACAC NP_001132915.1:n.768+101_768+102insCACCAACCCCCCAAACACACCCAACA...
NM_001300786.2:c.688-213_688-212insCACCAACCCCCCAAACACACCCAACAC NP_001287715.1:n.688-213_688-212insCACCAACCCCCCAAACACACCCAACA...
NM_001300787.2:c.768+101_768+102insCACCAACCCCCCAAACACACCCAACAC NP_001287716.1:n.768+101_768+102insCACCAACCCCCCAAACACACCCAACA...
NM_001363591.2:c.630+101_630+102insCACCAACCCCCCAAACACACCCAACAC NP_001350520.1:n.630+101_630+102insCACCAACCCCCCAAACACACCCAACA...
NM_001363593.2:c.-25+101_-25+102insCACCAACCCCCCAAACACACCCAACAC NP_001350522.1:n.-25+101_-25+102insCACCAACCCCCCAAACACACCCAACA...
NR_134580.2:n.1264+101_1264+102insCACCAACCCCCCAAACACACCCAACAC