Canonical Allele Identifier: CA2574846035
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61957290_61957291del , CM000673.2:g.61957290_61957291del GRCh38
NC_000011.9:g.61724762_61724763del , CM000673.1:g.61724762_61724763del GRCh37
NC_000011.8:g.61481338_61481339del NCBI36
NG_009033.1:g.12407_12408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.637-97_637-96del MANE Select ENSP00000367282.4:n.637-97_637-96del
ENST00000378043.8:c.637-97_637-96del ENSP00000367282.4:n.637-97_637-96del
ENST00000449131.6:c.457-97_457-96del ENSP00000399709.2:n.457-97_457-96del
ENST00000524877.5:n.1069-97_1069-96del
ENST00000524926.5:c.637-97_637-96del ENSP00000432681.1:n.637-97_637-96del
ENST00000526988.1:c.319-97_319-96del ENSP00000433195.1:n.319-97_319-96del
ENST00000529265.5:n.560-97_560-96del
ENST00000534553.5:c.163+1339_163+1340del ENSP00000431189.1:n.163+1339_163+1340del
NM_001139443.1:c.457-97_457-96del NP_001132915.1:n.457-97_457-96del
NM_001300786.1:c.457-97_457-96del NP_001287715.1:n.457-97_457-96del
NM_001300787.1:c.457-97_457-96del NP_001287716.1:n.457-97_457-96del
NM_004183.3:c.637-97_637-96del NP_004174.1:n.637-97_637-96del
XM_005274210.2:c.637-97_637-96del XP_005274267.1:n.637-97_637-96del
XM_005274215.2:c.319-97_319-96del XP_005274272.1:n.319-97_319-96del
XM_005274216.2:c.457-97_457-96del XP_005274273.1:n.457-97_457-96del
XM_005274218.3:c.319-97_319-96del XP_005274275.1:n.319-97_319-96del
XM_005274219.2:c.637-97_637-96del XP_005274276.1:n.637-97_637-96del
XM_005274221.2:c.637-97_637-96del XP_005274278.1:n.637-97_637-96del
XM_011545229.1:c.637-97_637-96del XP_011543531.1:n.637-97_637-96del
XM_011545230.1:c.544-97_544-96del XP_011543532.1:n.544-97_544-96del
XM_011545231.1:c.319-97_319-96del XP_011543533.1:n.319-97_319-96del
XM_011545232.1:c.637-97_637-96del XP_011543534.1:n.637-97_637-96del
NM_001363591.1:c.319-97_319-96del NP_001350520.1:n.319-97_319-96del
NM_001363592.1:c.637-97_637-96del NP_001350521.1:n.637-97_637-96del
NM_001363593.1:c.-539-97_-539-96del NP_001350522.1:n.-539-97_-539-96del
NR_134580.1:n.1217-97_1217-96del
XM_005274210.4:c.637-97_637-96del XP_005274267.1:n.637-97_637-96del
XM_005274215.4:c.319-97_319-96del XP_005274272.1:n.319-97_319-96del
XM_005274216.4:c.457-97_457-96del XP_005274273.1:n.457-97_457-96del
XM_005274219.4:c.637-97_637-96del XP_005274276.1:n.637-97_637-96del
XM_005274221.4:c.637-97_637-96del XP_005274278.1:n.637-97_637-96del
XM_011545229.3:c.637-97_637-96del XP_011543531.1:n.637-97_637-96del
XM_011545230.3:c.544-97_544-96del XP_011543532.1:n.544-97_544-96del
XM_017018230.2:c.319-97_319-96del XP_016873719.1:n.319-97_319-96del
XR_001747952.2:n.1135-97_1135-96del
XR_001747953.2:n.1327-97_1327-96del
XR_001747954.2:n.1327-97_1327-96del
XR_001748245.1:n.1439_1440del
XR_002957249.1:n.506-58_506-57del
NM_004183.4:c.637-97_637-96del MANE Select NP_004174.1:n.637-97_637-96del
NM_001139443.2:c.457-97_457-96del NP_001132915.1:n.457-97_457-96del
NM_001300786.2:c.457-97_457-96del NP_001287715.1:n.457-97_457-96del
NM_001300787.2:c.457-97_457-96del NP_001287716.1:n.457-97_457-96del
NM_001363591.2:c.319-97_319-96del NP_001350520.1:n.319-97_319-96del
NM_001363593.2:c.-539-97_-539-96del NP_001350522.1:n.-539-97_-539-96del
NR_134580.2:n.750-97_750-96del