Canonical Allele Identifier: CA2613924236
Gene: BEST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61955621_61955622insTT , CM000673.2:g.61955621_61955622insTT GRCh38
NC_000011.9:g.61723093_61723094insTT , CM000673.1:g.61723093_61723094insTT GRCh37
NC_000011.8:g.61479669_61479670insTT NCBI36
NG_009033.1:g.10738_10739insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.248-97_248-96insTT MANE Select ENSP00000367282.4:n.248-97_248-96insTT
ENST00000378043.8:c.248-97_248-96insTT ENSP00000367282.4:n.248-97_248-96insTT
ENST00000449131.6:c.68-97_68-96insTT ENSP00000399709.2:n.68-97_68-96insTT
ENST00000524877.5:n.583_584insTT
ENST00000524926.5:c.248-97_248-96insTT ENSP00000432681.1:n.248-97_248-96insTT
ENST00000526988.1:c.-71-97_-71-96insTT ENSP00000433195.1:n.-71-97_-71-96insTT
ENST00000529265.5:n.171-97_171-96insTT
ENST00000533521.5:n.775_776insTT
ENST00000534553.5:c.-71-97_-71-96insTT ENSP00000431189.1:n.-71-97_-71-96insTT
NM_001139443.1:c.68-97_68-96insTT NP_001132915.1:n.68-97_68-96insTT
NM_001300786.1:c.68-97_68-96insTT NP_001287715.1:n.68-97_68-96insTT
NM_001300787.1:c.68-97_68-96insTT NP_001287716.1:n.68-97_68-96insTT
NM_004183.3:c.248-97_248-96insTT NP_004174.1:n.248-97_248-96insTT
XM_005274210.2:c.248-97_248-96insTT XP_005274267.1:n.248-97_248-96insTT
XM_005274215.2:c.-71-97_-71-96insTT XP_005274272.1:n.-71-97_-71-96insTT
XM_005274216.2:c.68-97_68-96insTT XP_005274273.1:n.68-97_68-96insTT
XM_005274218.3:c.-71-97_-71-96insTT XP_005274275.1:n.-71-97_-71-96insTT
XM_005274219.2:c.248-97_248-96insTT XP_005274276.1:n.248-97_248-96insTT
XM_005274221.2:c.248-97_248-96insTT XP_005274278.1:n.248-97_248-96insTT
XM_011545229.1:c.248-97_248-96insTT XP_011543531.1:n.248-97_248-96insTT
XM_011545230.1:c.155-97_155-96insTT XP_011543532.1:n.155-97_155-96insTT
XM_011545231.1:c.-71-97_-71-96insTT XP_011543533.1:n.-71-97_-71-96insTT
XM_011545232.1:c.248-97_248-96insTT XP_011543534.1:n.248-97_248-96insTT
NM_001363591.1:c.-71-97_-71-96insTT NP_001350520.1:n.-71-97_-71-96insTT
NM_001363592.1:c.248-97_248-96insTT NP_001350521.1:n.248-97_248-96insTT
NM_001363593.1:c.-928-97_-928-96insTT NP_001350522.1:n.-928-97_-928-96insTT
NR_134580.1:n.828-97_828-96insTT
XM_005274210.4:c.248-97_248-96insTT XP_005274267.1:n.248-97_248-96insTT
XM_005274215.4:c.-71-97_-71-96insTT XP_005274272.1:n.-71-97_-71-96insTT
XM_005274216.4:c.68-97_68-96insTT XP_005274273.1:n.68-97_68-96insTT
XM_005274219.4:c.248-97_248-96insTT XP_005274276.1:n.248-97_248-96insTT
XM_005274221.4:c.248-97_248-96insTT XP_005274278.1:n.248-97_248-96insTT
XM_011545229.3:c.248-97_248-96insTT XP_011543531.1:n.248-97_248-96insTT
XM_011545230.3:c.155-97_155-96insTT XP_011543532.1:n.155-97_155-96insTT
XM_017018230.2:c.-71-97_-71-96insTT XP_016873719.1:n.-71-97_-71-96insTT
XR_001747952.2:n.746-97_746-96insTT
XR_001747953.2:n.938-97_938-96insTT
XR_001747954.2:n.938-97_938-96insTT
XR_002957249.1:n.2116_2117insAA
NM_004183.4:c.248-97_248-96insTT MANE Select NP_004174.1:n.248-97_248-96insTT
NM_001139443.2:c.68-97_68-96insTT NP_001132915.1:n.68-97_68-96insTT
NM_001300786.2:c.68-97_68-96insTT NP_001287715.1:n.68-97_68-96insTT
NM_001300787.2:c.68-97_68-96insTT NP_001287716.1:n.68-97_68-96insTT
NM_001363591.2:c.-71-97_-71-96insTT NP_001350520.1:n.-71-97_-71-96insTT
NM_001363593.2:c.-928-97_-928-96insTT NP_001350522.1:n.-928-97_-928-96insTT
NR_134580.2:n.361-97_361-96insTT