Canonical Allele Identifier: CA1977561014
Gene: BEST1 HGNC NCBI

Linked Data

dbSNP Id: rs1941248838

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61955728_61955729del , CM000673.2:g.61955728_61955729del GRCh38
NC_000011.9:g.61723200_61723201del , CM000673.1:g.61723200_61723201del GRCh37
NC_000011.8:g.61479776_61479777del NCBI36
NG_009033.1:g.10845_10846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.258_259del MANE Select ENSP00000367282.4:p.Thr87AlafsTer?
ENST00000378043.8:c.258_259del ENSP00000367282.4:p.Thr87AlafsTer?
ENST00000449131.6:c.78_79del ENSP00000399709.2:p.Thr27AlafsTer?
ENST00000524877.5:n.690_691del
ENST00000524926.5:c.258_259del ENSP00000432681.1:p.Thr87AlafsTer?
ENST00000526988.1:c.-61_-60del ENSP00000433195.1:n.-61_-60del
ENST00000529265.5:n.181_182del
ENST00000533521.5:n.882_883del
ENST00000534553.5:c.-61_-60del ENSP00000431189.1:n.-61_-60del
NM_001139443.1:c.78_79del NP_001132915.1:p.Thr27AlafsTer?
NM_001300786.1:c.78_79del NP_001287715.1:p.Thr27AlafsTer?
NM_001300787.1:c.78_79del NP_001287716.1:p.Thr27AlafsTer?
NM_004183.3:c.258_259del NP_004174.1:p.Thr87AlafsTer?
XM_005274210.2:c.258_259del XP_005274267.1:p.Thr87AlafsTer?
XM_005274215.2:c.-61_-60del XP_005274272.1:n.-61_-60del
XM_005274216.2:c.78_79del XP_005274273.1:p.Thr27AlafsTer?
XM_005274218.3:c.-61_-60del XP_005274275.1:n.-61_-60del
XM_005274219.2:c.258_259del XP_005274276.1:p.Thr87AlafsTer?
XM_005274221.2:c.258_259del XP_005274278.1:p.Thr87AlafsTer?
XM_011545229.1:c.258_259del XP_011543531.1:p.Thr87AlafsTer?
XM_011545230.1:c.165_166del XP_011543532.1:p.Thr56AlafsTer?
XM_011545231.1:c.-61_-60del XP_011543533.1:n.-61_-60del
XM_011545232.1:c.258_259del XP_011543534.1:p.Thr87AlafsTer?
NM_001363591.1:c.-61_-60del NP_001350520.1:n.-61_-60del
NM_001363592.1:c.258_259del NP_001350521.1:p.Thr87AlafsTer?
NM_001363593.1:c.-918_-917del NP_001350522.1:n.-918_-917del
NR_134580.1:n.838_839del
XM_005274210.4:c.258_259del XP_005274267.1:p.Thr87AlafsTer?
XM_005274215.4:c.-61_-60del XP_005274272.1:n.-61_-60del
XM_005274216.4:c.78_79del XP_005274273.1:p.Thr27AlafsTer?
XM_005274219.4:c.258_259del XP_005274276.1:p.Thr87AlafsTer?
XM_005274221.4:c.258_259del XP_005274278.1:p.Thr87AlafsTer?
XM_011545229.3:c.258_259del XP_011543531.1:p.Thr87AlafsTer?
XM_011545230.3:c.165_166del XP_011543532.1:p.Thr56AlafsTer?
XM_017018230.2:c.-61_-60del XP_016873719.1:n.-61_-60del
XR_001747952.2:n.756_757del
XR_001747953.2:n.948_949del
XR_001747954.2:n.948_949del
XR_002957249.1:n.2009_2010del
NM_004183.4:c.258_259del MANE Select NP_004174.1:p.Thr87AlafsTer?
NM_001139443.2:c.78_79del NP_001132915.1:p.Thr27AlafsTer?
NM_001300786.2:c.78_79del NP_001287715.1:p.Thr27AlafsTer?
NM_001300787.2:c.78_79del NP_001287716.1:p.Thr27AlafsTer?
NM_001363591.2:c.-61_-60del NP_001350520.1:n.-61_-60del
NM_001363593.2:c.-918_-917del NP_001350522.1:n.-918_-917del
NR_134580.2:n.371_372del