Canonical Allele Identifier: CA2613922994
Gene: BEST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61955098_61955099insCCCCCCCCCCCCCCCCCC , CM000673.2:g.61955098_61955099insCCCCCCCCCCCCCCCCCC GRCh38
NC_000011.9:g.61722570_61722571insCCCCCCCCCCCCCCCCCC , CM000673.1:g.61722570_61722571insCCCCCCCCCCCCCCCCCC GRCh37
NC_000011.8:g.61479146_61479147insCCCCCCCCCCCCCCCCCC NCBI36
NG_009033.1:g.10215_10216insCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000378043.9:c.153-9_153-8insCCCCCCCCCCCCCCCCCC MANE Select ENSP00000367282.4:n.153-9_153-8insCCCCCCC...
ENST00000378043.8:c.153-9_153-8insCCCCCCCCCCCCCCCCCC ENSP00000367282.4:n.153-9_153-8insCCCCCCC...
ENST00000449131.6:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC ENSP00000399709.2:n.-28-9_-28-8insCCCCCCC...
ENST00000524877.5:n.69-9_69-8insCCCCCCCCCCCCCCCCCC
ENST00000524926.5:c.153-9_153-8insCCCCCCCCCCCCCCCCCC ENSP00000432681.1:n.153-9_153-8insCCCCCCC...
ENST00000529265.5:n.76-9_76-8insCCCCCCCCCCCCCCCCCC
ENST00000533521.5:n.261-9_261-8insCCCCCCCCCCCCCCCCCC
ENST00000534553.5:c.-211-9_-211-8insCCCCCCCCCCCCCCCCCC ENSP00000431189.1:n.-211-9_-211-8insCCCCC...
NM_001139443.1:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC NP_001132915.1:n.-28-9_-28-8insCCCCCCCCCC...
NM_001300786.1:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC NP_001287715.1:n.-28-9_-28-8insCCCCCCCCCC...
NM_001300787.1:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC NP_001287716.1:n.-28-9_-28-8insCCCCCCCCCC...
NM_004183.3:c.153-9_153-8insCCCCCCCCCCCCCCCCCC NP_004174.1:n.153-9_153-8insCCCCCCCCCCCCC...
XM_005274210.2:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_005274267.1:n.153-9_153-8insCCCCCCCCCC...
XM_005274216.2:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC XP_005274273.1:n.-28-9_-28-8insCCCCCCCCCC...
XM_005274218.3:c.-211-9_-211-8insCCCCCCCCCCCCCCCCCC XP_005274275.1:n.-211-9_-211-8insCCCCCCCC...
XM_005274219.2:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_005274276.1:n.153-9_153-8insCCCCCCCCCC...
XM_005274221.2:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_005274278.1:n.153-9_153-8insCCCCCCCCCC...
XM_011545229.1:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_011543531.1:n.153-9_153-8insCCCCCCCCCC...
XM_011545230.1:c.60-9_60-8insCCCCCCCCCCCCCCCCCC XP_011543532.1:n.60-9_60-8insCCCCCCCCCCCC...
XM_011545231.1:c.-211-9_-211-8insCCCCCCCCCCCCCCCCCC XP_011543533.1:n.-211-9_-211-8insCCCCCCCC...
XM_011545232.1:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_011543534.1:n.153-9_153-8insCCCCCCCCCC...
NM_001363591.1:c.-361_-360insCCCCCCCCCCCCCCCCCC NP_001350520.1:n.-361_-360insCCCCCCCCCCCC...
NM_001363592.1:c.153-9_153-8insCCCCCCCCCCCCCCCCCC NP_001350521.1:n.153-9_153-8insCCCCCCCCCC...
NM_001363593.1:c.-1218_-1217insCCCCCCCCCCCCCCCCCC NP_001350522.1:n.-1218_-1217insCCCCCCCCCC...
NR_134580.1:n.733-9_733-8insCCCCCCCCCCCCCCCCCC
XM_005274210.4:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_005274267.1:n.153-9_153-8insCCCCCCCCCC...
XM_005274215.4:c.-361_-360insCCCCCCCCCCCCCCCCCC XP_005274272.1:n.-361_-360insCCCCCCCCCCCC...
XM_005274216.4:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC XP_005274273.1:n.-28-9_-28-8insCCCCCCCCCC...
XM_005274219.4:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_005274276.1:n.153-9_153-8insCCCCCCCCCC...
XM_005274221.4:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_005274278.1:n.153-9_153-8insCCCCCCCCCC...
XM_011545229.3:c.153-9_153-8insCCCCCCCCCCCCCCCCCC XP_011543531.1:n.153-9_153-8insCCCCCCCCCC...
XM_011545230.3:c.60-9_60-8insCCCCCCCCCCCCCCCCCC XP_011543532.1:n.60-9_60-8insCCCCCCCCCCCC...
XM_017018230.2:c.-361_-360insCCCCCCCCCCCCCCCCCC XP_016873719.1:n.-361_-360insCCCCCCCCCCCC...
XR_001747952.2:n.651-9_651-8insCCCCCCCCCCCCCCCCCC
XR_001747953.2:n.843-9_843-8insCCCCCCCCCCCCCCCCCC
XR_001747954.2:n.843-9_843-8insCCCCCCCCCCCCCCCCCC
XR_002957249.1:n.2644_2645insGGGGGGGGGGGGGGGGGG
NM_004183.4:c.153-9_153-8insCCCCCCCCCCCCCCCCCC MANE Select NP_004174.1:n.153-9_153-8insCCCCCCCCCCCCC...
NM_001139443.2:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC NP_001132915.1:n.-28-9_-28-8insCCCCCCCCCC...
NM_001300786.2:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC NP_001287715.1:n.-28-9_-28-8insCCCCCCCCCC...
NM_001300787.2:c.-28-9_-28-8insCCCCCCCCCCCCCCCCCC NP_001287716.1:n.-28-9_-28-8insCCCCCCCCCC...
NR_134580.2:n.266-9_266-8insCCCCCCCCCCCCCCCCCC