Canonical Allele Identifier: CA2792335818

Gene: BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959701_61959706del , CM000673.2:g.61959701_61959706del	GRCh38
NC_000011.9:g.61727173_61727178del , CM000673.1:g.61727173_61727178del	GRCh37
NC_000011.8:g.61483749_61483754del	NCBI36
NG_009033.1:g.14818_14823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.948+123_948+128del MANE Select	ENSP00000367282.4:n.948+123_948+128del
ENST00000378043.8:c.948+123_948+128del	ENSP00000367282.4:n.948+123_948+128del
ENST00000449131.6:c.768+123_768+128del	ENSP00000399709.2:n.768+123_768+128del
ENST00000524877.5:n.2579+123_2579+128del
ENST00000524926.5:c.1151+123_1151+128del	ENSP00000432681.1:n.1151+123_1151+128del
ENST00000526988.1:c.833+123_833+128del	ENSP00000433195.1:n.833+123_833+128del
ENST00000534553.5:c.164-2554_164-2549del	ENSP00000431189.1:n.164-2554_164-2549del
NM_001139443.1:c.768+123_768+128del	NP_001132915.1:n.768+123_768+128del
NM_001300786.1:c.688-191_688-186del	NP_001287715.1:n.688-191_688-186del
NM_001300787.1:c.768+123_768+128del	NP_001287716.1:n.768+123_768+128del
NM_004183.3:c.948+123_948+128del	NP_004174.1:n.948+123_948+128del
XM_005274210.2:c.948+123_948+128del	XP_005274267.1:n.948+123_948+128del
XM_005274215.2:c.630+123_630+128del	XP_005274272.1:n.630+123_630+128del
XM_005274216.2:c.971+123_971+128del	XP_005274273.1:n.971+123_971+128del
XM_005274218.3:c.833+123_833+128del	XP_005274275.1:n.833+123_833+128del
XM_005274219.2:c.867+1403_867+1408del	XP_005274276.1:n.867+1403_867+1408del
XM_005274221.2:c.714+2237_714+2242del	XP_005274278.1:n.714+2237_714+2242del
XM_011545229.1:c.948+123_948+128del	XP_011543531.1:n.948+123_948+128del
XM_011545230.1:c.855+123_855+128del	XP_011543532.1:n.855+123_855+128del
XM_011545231.1:c.630+123_630+128del	XP_011543533.1:n.630+123_630+128del
XM_011545232.1:c.1151+123_1151+128del	XP_011543534.1:n.1151+123_1151+128del
XM_011545233.1:c.105+123_105+128del	XP_011543535.1:n.105+123_105+128del
NM_001363591.1:c.630+123_630+128del	NP_001350520.1:n.630+123_630+128del
NM_001363592.1:c.1151+123_1151+128del	NP_001350521.1:n.1151+123_1151+128del
NM_001363593.1:c.-25+123_-25+128del	NP_001350522.1:n.-25+123_-25+128del
NR_134580.1:n.1731+123_1731+128del
XM_005274210.4:c.948+123_948+128del	XP_005274267.1:n.948+123_948+128del
XM_005274215.4:c.630+123_630+128del	XP_005274272.1:n.630+123_630+128del
XM_005274216.4:c.971+123_971+128del	XP_005274273.1:n.971+123_971+128del
XM_005274219.4:c.867+1403_867+1408del	XP_005274276.1:n.867+1403_867+1408del
XM_005274221.4:c.714+2237_714+2242del	XP_005274278.1:n.714+2237_714+2242del
XM_011545229.3:c.948+123_948+128del	XP_011543531.1:n.948+123_948+128del
XM_011545230.3:c.855+123_855+128del	XP_011543532.1:n.855+123_855+128del
XM_011545233.3:c.105+123_105+128del	XP_011543535.1:n.105+123_105+128del
XM_017018230.2:c.833+123_833+128del	XP_016873719.1:n.833+123_833+128del
XR_001747952.2:n.1649+123_1649+128del
XR_001747953.2:n.1557+1403_1557+1408del
XR_001747954.2:n.1404+2237_1404+2242del
XR_001748245.1:n.196+26_196+31del
XR_002957249.1:n.196+26_196+31del
NM_004183.4:c.948+123_948+128del MANE Select	NP_004174.1:n.948+123_948+128del
NM_001139443.2:c.768+123_768+128del	NP_001132915.1:n.768+123_768+128del
NM_001300786.2:c.688-191_688-186del	NP_001287715.1:n.688-191_688-186del
NM_001300787.2:c.768+123_768+128del	NP_001287716.1:n.768+123_768+128del
NM_001363591.2:c.630+123_630+128del	NP_001350520.1:n.630+123_630+128del
NM_001363593.2:c.-25+123_-25+128del	NP_001350522.1:n.-25+123_-25+128del
NR_134580.2:n.1264+123_1264+128del