Canonical Allele Identifier: CA2723910908
Gene: BEST1 HGNC NCBI

Linked Data

dbSNP Id: rs2134444425

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61958140_61958141insACTCCTCCT , CM000673.2:g.61958140_61958141insACTCCTCCT GRCh38
NC_000011.9:g.61725612_61725613insACTCCTCCT , CM000673.1:g.61725612_61725613insACTCCTCCT GRCh37
NC_000011.8:g.61482188_61482189insACTCCTCCT NCBI36
NG_009033.1:g.13257_13258insACTCCTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.715-6_715-5insACTCCTCCT MANE Select ENSP00000367282.4:n.715-6_715-5insACTCCTCCT
ENST00000378043.8:c.715-6_715-5insACTCCTCCT ENSP00000367282.4:n.715-6_715-5insACTCCTCCT
ENST00000449131.6:c.535-6_535-5insACTCCTCCT ENSP00000399709.2:n.535-6_535-5insACTCCTCCT
ENST00000524877.5:n.1147-6_1147-5insACTCCTCCT
ENST00000524926.5:c.715-6_715-5insACTCCTCCT ENSP00000432681.1:n.715-6_715-5insACTCCTCCT
ENST00000526988.1:c.397-6_397-5insACTCCTCCT ENSP00000433195.1:n.397-6_397-5insACTCCTCCT
ENST00000529265.5:n.638-6_638-5insACTCCTCCT
ENST00000534553.5:c.163+2189_163+2190insACTCCTCCT ENSP00000431189.1:n.163+2189_163+2190insACTCCTCCT
NM_001139443.1:c.535-6_535-5insACTCCTCCT NP_001132915.1:n.535-6_535-5insACTCCTCCT
NM_001300786.1:c.535-6_535-5insACTCCTCCT NP_001287715.1:n.535-6_535-5insACTCCTCCT
NM_001300787.1:c.535-6_535-5insACTCCTCCT NP_001287716.1:n.535-6_535-5insACTCCTCCT
NM_004183.3:c.715-6_715-5insACTCCTCCT NP_004174.1:n.715-6_715-5insACTCCTCCT
XM_005274210.2:c.715-6_715-5insACTCCTCCT XP_005274267.1:n.715-6_715-5insACTCCTCCT
XM_005274215.2:c.397-6_397-5insACTCCTCCT XP_005274272.1:n.397-6_397-5insACTCCTCCT
XM_005274216.2:c.535-6_535-5insACTCCTCCT XP_005274273.1:n.535-6_535-5insACTCCTCCT
XM_005274218.3:c.397-6_397-5insACTCCTCCT XP_005274275.1:n.397-6_397-5insACTCCTCCT
XM_005274219.2:c.715-6_715-5insACTCCTCCT XP_005274276.1:n.715-6_715-5insACTCCTCCT
XM_005274221.2:c.714+676_714+677insACTCCTCCT XP_005274278.1:n.714+676_714+677insACTCCTCCT
XM_011545229.1:c.715-6_715-5insACTCCTCCT XP_011543531.1:n.715-6_715-5insACTCCTCCT
XM_011545230.1:c.622-6_622-5insACTCCTCCT XP_011543532.1:n.622-6_622-5insACTCCTCCT
XM_011545231.1:c.397-6_397-5insACTCCTCCT XP_011543533.1:n.397-6_397-5insACTCCTCCT
XM_011545232.1:c.715-6_715-5insACTCCTCCT XP_011543534.1:n.715-6_715-5insACTCCTCCT
NM_001363591.1:c.397-6_397-5insACTCCTCCT NP_001350520.1:n.397-6_397-5insACTCCTCCT
NM_001363592.1:c.715-6_715-5insACTCCTCCT NP_001350521.1:n.715-6_715-5insACTCCTCCT
NM_001363593.1:c.-461-6_-461-5insACTCCTCCT NP_001350522.1:n.-461-6_-461-5insACTCCTCCT
NR_134580.1:n.1295-6_1295-5insACTCCTCCT
XM_005274210.4:c.715-6_715-5insACTCCTCCT XP_005274267.1:n.715-6_715-5insACTCCTCCT
XM_005274215.4:c.397-6_397-5insACTCCTCCT XP_005274272.1:n.397-6_397-5insACTCCTCCT
XM_005274216.4:c.535-6_535-5insACTCCTCCT XP_005274273.1:n.535-6_535-5insACTCCTCCT
XM_005274219.4:c.715-6_715-5insACTCCTCCT XP_005274276.1:n.715-6_715-5insACTCCTCCT
XM_005274221.4:c.714+676_714+677insACTCCTCCT XP_005274278.1:n.714+676_714+677insACTCCTCCT
XM_011545229.3:c.715-6_715-5insACTCCTCCT XP_011543531.1:n.715-6_715-5insACTCCTCCT
XM_011545230.3:c.622-6_622-5insACTCCTCCT XP_011543532.1:n.622-6_622-5insACTCCTCCT
XM_017018230.2:c.397-6_397-5insACTCCTCCT XP_016873719.1:n.397-6_397-5insACTCCTCCT
XR_001747952.2:n.1213-6_1213-5insACTCCTCCT
XR_001747953.2:n.1405-6_1405-5insACTCCTCCT
XR_001747954.2:n.1404+676_1404+677insACTCCTCCT
XR_001748245.1:n.596_597insTAGGAGGAG
XR_002957249.1:n.505+91_505+92insTAGGAGGAG
NM_004183.4:c.715-6_715-5insACTCCTCCT MANE Select NP_004174.1:n.715-6_715-5insACTCCTCCT
NM_001139443.2:c.535-6_535-5insACTCCTCCT NP_001132915.1:n.535-6_535-5insACTCCTCCT
NM_001300786.2:c.535-6_535-5insACTCCTCCT NP_001287715.1:n.535-6_535-5insACTCCTCCT
NM_001300787.2:c.535-6_535-5insACTCCTCCT NP_001287716.1:n.535-6_535-5insACTCCTCCT
NM_001363591.2:c.397-6_397-5insACTCCTCCT NP_001350520.1:n.397-6_397-5insACTCCTCCT
NM_001363593.2:c.-461-6_-461-5insACTCCTCCT NP_001350522.1:n.-461-6_-461-5insACTCCTCCT
NR_134580.2:n.828-6_828-5insACTCCTCCT