Canonical Allele Identifier: CA2613926118
Gene: BEST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959448_61959474dup , CM000673.2:g.61959448_61959474dup GRCh38
NC_000011.9:g.61726920_61726946dup , CM000673.1:g.61726920_61726946dup GRCh37
NC_000011.8:g.61483496_61483522dup NCBI36
NG_009033.1:g.14565_14591dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.868-50_868-24dup MANE Select ENSP00000367282.4:n.868-50_868-24dup
ENST00000378043.8:c.868-50_868-24dup ENSP00000367282.4:n.868-50_868-24dup
ENST00000449131.6:c.688-50_688-24dup ENSP00000399709.2:n.688-50_688-24dup
ENST00000524877.5:n.2449_2475dup
ENST00000524926.5:c.1071-50_1071-24dup ENSP00000432681.1:n.1071-50_1071-24dup
ENST00000526988.1:c.753-50_753-24dup ENSP00000433195.1:n.753-50_753-24dup
ENST00000534553.5:c.164-2807_164-2781dup ENSP00000431189.1:n.164-2807_164-2781dup
NM_001139443.1:c.688-50_688-24dup NP_001132915.1:n.688-50_688-24dup
NM_001300786.1:c.688-444_688-418dup NP_001287715.1:n.688-444_688-418dup
NM_001300787.1:c.688-50_688-24dup NP_001287716.1:n.688-50_688-24dup
NM_004183.3:c.868-50_868-24dup NP_004174.1:n.868-50_868-24dup
XM_005274210.2:c.868-50_868-24dup XP_005274267.1:n.868-50_868-24dup
XM_005274215.2:c.550-50_550-24dup XP_005274272.1:n.550-50_550-24dup
XM_005274216.2:c.891-50_891-24dup XP_005274273.1:n.891-50_891-24dup
XM_005274218.3:c.753-50_753-24dup XP_005274275.1:n.753-50_753-24dup
XM_005274219.2:c.867+1150_867+1176dup XP_005274276.1:n.867+1150_867+1176dup
XM_005274221.2:c.714+1984_714+2010dup XP_005274278.1:n.714+1984_714+2010dup
XM_011545229.1:c.868-50_868-24dup XP_011543531.1:n.868-50_868-24dup
XM_011545230.1:c.775-50_775-24dup XP_011543532.1:n.775-50_775-24dup
XM_011545231.1:c.550-50_550-24dup XP_011543533.1:n.550-50_550-24dup
XM_011545232.1:c.1071-50_1071-24dup XP_011543534.1:n.1071-50_1071-24dup
XM_011545233.1:c.25-50_25-24dup XP_011543535.1:n.25-50_25-24dup
NM_001363591.1:c.550-50_550-24dup NP_001350520.1:n.550-50_550-24dup
NM_001363592.1:c.1071-50_1071-24dup NP_001350521.1:n.1071-50_1071-24dup
NM_001363593.1:c.-105-50_-105-24dup NP_001350522.1:n.-105-50_-105-24dup
NR_134580.1:n.1651-50_1651-24dup
XM_005274210.4:c.868-50_868-24dup XP_005274267.1:n.868-50_868-24dup
XM_005274215.4:c.550-50_550-24dup XP_005274272.1:n.550-50_550-24dup
XM_005274216.4:c.891-50_891-24dup XP_005274273.1:n.891-50_891-24dup
XM_005274219.4:c.867+1150_867+1176dup XP_005274276.1:n.867+1150_867+1176dup
XM_005274221.4:c.714+1984_714+2010dup XP_005274278.1:n.714+1984_714+2010dup
XM_011545229.3:c.868-50_868-24dup XP_011543531.1:n.868-50_868-24dup
XM_011545230.3:c.775-50_775-24dup XP_011543532.1:n.775-50_775-24dup
XM_011545233.3:c.25-50_25-24dup XP_011543535.1:n.25-50_25-24dup
XM_017018230.2:c.753-50_753-24dup XP_016873719.1:n.753-50_753-24dup
XR_001747952.2:n.1569-50_1569-24dup
XR_001747953.2:n.1557+1150_1557+1176dup
XR_001747954.2:n.1404+1984_1404+2010dup
XR_001748245.1:n.196+258_196+284dup
XR_002957249.1:n.196+258_196+284dup
NM_004183.4:c.868-50_868-24dup MANE Select NP_004174.1:n.868-50_868-24dup
NM_001139443.2:c.688-50_688-24dup NP_001132915.1:n.688-50_688-24dup
NM_001300786.2:c.688-444_688-418dup NP_001287715.1:n.688-444_688-418dup
NM_001300787.2:c.688-50_688-24dup NP_001287716.1:n.688-50_688-24dup
NM_001363591.2:c.550-50_550-24dup NP_001350520.1:n.550-50_550-24dup
NM_001363593.2:c.-105-50_-105-24dup NP_001350522.1:n.-105-50_-105-24dup
NR_134580.2:n.1184-50_1184-24dup